By selecting a generic term (e.g. SPECIES) you will go to the corresponding list of controlled terms, while by selecting a specific term you will go to the list of corresponding cell line names. Cri du Chat ( cri du chat syndrome # 123450, human ) TISSUE/ORGAN: skin, fibroblast FUNCTIONS, PRODUCTS AND APPLICATIONS: chromosome studies Availability from LABORATORIES and advices: CAMR Centre for Applied Microbiology & Research ( ECACC , Salisbury, Wiltshire ) CULTURE MEDIUM: MC04 ; FREEZING MEDIUM : CME1 ; Split 1: 3 Passage 17 mycoplasma negative, HOECHST and culture Availability in cell line catalogues: ATCC : CCL 90 , ECACC : 90102533 , Bibliographic references: Cytogenetics 1966, 5:137

Please use the chatroom or the message board. The theory is that children with Downs Syndrome are not able to properly extract the necessary nutrients from food. Are there any parents out there with teenagers having this syndrome who are dealing with extreme stress and horrible behavior? However, he has formed of habit of picking at his skin, and sucking on his fingers which causes bleeding and sores )he has done this the last five years but now it is becoming a health issue). They would like to talk to other families who have children with bowel problems, or advice about sign language. We are in the process of getting ready for surgery to correct asociated scoliosis, and would like to hear from families with CDC children who have had major surgeries.

not replicate the error, not perpetuate a syndrome which they themselves may suffer." Michael Dorris, author of The Broken Cord, in congressional testimony on fetal alcohol syndrome (March 5, 1992). The use of alcohol, tobacco, and/or other drugs (ATOD) during pregnancy continues to be a leading preventable cause of mental, physical, and psychological impairments and problems in infants and children. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 18, and U.S. Department of Health and Human Services, National Institute on Alcohol Abuse and Alcoholism, Alcohol Alert, #13,July 1991, p.2. U.S. Department of Health and Human Services, National Institute on Alcohol Abuse and Alcoholism, Alcohol Alert, #13, July 1991, p.2. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 16. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, pp. U.S. Department of Health and Human Services, National Institutes of Health, Respiratory Health Effects of Passive Smoking: Lung Cancer and Other Disorders, The Report of the U.S. Environmental Protection Agency, 1993, p. 283, and U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 24. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 57.

not replicate the error, not perpetuate a syndrome which they themselves may suffer." Michael Dorris, author of The Broken Cord, in congressional testimony on fetal alcohol syndrome (March 5, 1992). The use of alcohol, tobacco, and/or other drugs (ATOD) during pregnancy continues to be a leading preventable cause of mental, physical, and psychological impairments and problems in infants and children. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 18, and U.S. Department of Health and Human Services, National Institute on Alcohol Abuse and Alcoholism, Alcohol Alert, #13,July 1991, p.2. U.S. Department of Health and Human Services, National Institute on Alcohol Abuse and Alcoholism, Alcohol Alert, #13, July 1991, p.2. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 16. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, pp. U.S. Department of Health and Human Services, National Institutes of Health, Respiratory Health Effects of Passive Smoking: Lung Cancer and Other Disorders, The Report of the U.S. Environmental Protection Agency, 1993, p. 283, and U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 24. U.S. Department of Health and Human Services, Center for Substance Abuse Prevention, Alcohol, Tobacco, and Other Drugs May Harm the Unborn, reprinted 1994, p. 57.

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PUBLICATIONS (a) Refereed Articles Wilhelm K, Mitchell P, Boyce P, Hickie I, Brodaty H, Austin M P, Parker G. Treatment Resistant Depression in an Australian Context I: the utility of the term and approaches to management. Boyce P, Hickie I. A Brave New World in Managing Depression - or is it? Wilson A, Hickie I, Lloyd A, Wakerfield D. Science and Speculation: the treatment of chronic fatigue syndrome. Allen G M, Hickie I, Gandevia S C, McKenzie D K. Impaired Voluntary Drive to Breath: a possible link between depression and unexplained ventilatory failure in asthmatics. Fukuda K, Straus S E, Hickie I, Sharpe M C, Dobbins J G, Komarff A. The Chronic Fatigue Syndrome: a comprehensive approach to its definition and study. Wilson A, Hickie I, Lloyd A, Hadzi-Pavlovic D, Boughton C, Dwyer J, Wakefield D. Chronic Fatigue Syndrome: role of psychological factors overemphasised - reply (cor).

Here is a list of responses that have been posted to this article. I'll be there (9/24/96) 8:47 PM We have a room! (9/23/96) 3:05 AM P - missed you (9/22/96) 11:22 PM p (9/21/96) 2:29 PM r (9/21/96) 1:46 PM p (9/21/96) 9:50 AM R (9/21/96) 8:13 AM p (9/21/96) 7:14 AM Chat room? (9/20/96) 5:57 PM p (9/19/96) 1:07 PM r (9/19/96) 12:57 PM p (9/19/96) 8:10 AM (9/19/96) 2:15 AM R (9/18/96) 10:19 PM Ouch. (9/18/96) 9:23 PM Thanks (9/18/96) 8:58 PM P (9/18/96) 7:42 PM r (9/18/96) 2:17 PM You're right, of course (9/18/96) 11:35 AM r (9/18/96) 10:46 AM you got it. You now have TWO OPTIONS: Post a new Article or post a Response to this Article

Title: Biology 512 - Selected Topics in Genetics: Practical Aspects of Genetic Education Description: GGC has sponsored the Human Genetics Course for South Carolina Science Teachers for the last 4 years. The course is an intensive overview of human genetics with emphasis placed on the latest understanding of the role of genetics in human disease and medical diagnosis, current advances in the human genome project and the role of genetics in society and education. For Course Registration: Please complete and mail the form below, along with your course deposit check of $40 to: Greenwood Genetic Center One Gregor Mendel Circle Greenwood, SC 29646 For more information, please contact Kevin Sweet or Ashlee Davenport toll free at 1-888-GGC-GENE or (864) 941-8100.  Applicants Name: Social Security Number: Mailing Address:   Home Phone Number: School Name: Work Phone Number: E-mail address:   MONDAY     7:45 AM Coffee, doughnuts   8:00- 9:30 Introduction to course, to include schedule breakdown, evaluations and direction; Course notebook; 'Icebreaker'; pretest   9:30-10:10 Overview of the Greenwood Genetic Center; Impact of Genetic Disease on Society Saul 10:10-10:20 BREAK   10:20 - 12:00 Review general concepts from Chapters 1,2,3,4,7,8,9,10 from Ricki Lewis Textbook Sweet/Seaver 12:00-1:00 PM LUNCH with preceptors   1:00-2:00 Film - 'The Immortal Thread' from PBS "Secret of Life" series   2:00-2:50 Classical and Modern Genetics Through The Human Genome Project Sweet 3:00-3:15 BREAK   3:15 -4:20 Pedigree Development Workshop - Case Studies/ Genetic Counseling Issues/Working a Pedigree Stanislaw/Anderson 4:30-5:20 Genetics of Common Conditions - Single Gene and Multifactorial Expression Geer 5:30-5:45 Review pretest with answers   5:45-6:30 MIXER     Homework - Review Chapters 6, 8, 10, 11, 17 for Tuesday   TUESDAY     7:45 AM Coffee and doughnuts   7:55 Review of Tuesdays schedule/evaluations; attendance log   8:00-8:50 Introduction to Cytogenetics - Trisomies (T-21, T-13, T-18), deletions (5p-, 4p-), insertions, translocations, etc. Phelan 9:00-10:10 FISH and Clinical Cytogenetics - William Syndrome, PWS, CMT 1A, SMS, VCF Phelan/Geer 10:15-10:30 BREAK   10:30-11:00 Film - 'Birth, Sex and Death' from PBS "Secret of Life" series   11:00-11:50 Sex Chromosome Aneuploids, Sex Determination and Differentiation (SRY Gene) Klinefelter,Turner; Pseudohermaphrodites; 46, XX males; 46,XY females Schroer 12:00-1:00 LUNCH with preceptors   1:00-1:50 'Biology on a Shoestring Budget' - N.A.B.T.

The gene responsible for the FRAXA syndrome, the FMR1 gene, has been cloned. Inactivation of the FMR1 gene is associated with amplification of a trinucle-otide CGG repeat sequence and methylation of an adjacent CpG island. The pattern of inheritance in the fragile X (fra (X) ) mutation follows a multistage intergenerational process in which the premutation evolves into the full mutation and the characteristic phenotype of the fra (X) syndrome after passing through oogenesis or a poszygotic event. The relationships among parental origin of the fragile X gene, gene structure, and specific cognitive deficits were evaluated in nonretarded adult female fragile X carriers to determine whether: (1) origin influences gene structure and cognitive function, (2) mild cognitive impairments are associated with altered gene structure, and (3) specific cognitive domains are affected. Fragile X syndrome, a frequent form of inherited mental retardation, results from the unstable expansions of a cryptic CGG repeat within the 5' UTR region of the FMR1 gene. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene.

thrive@health - BMJ 1993 May 1: Abnormalities of sleep in patients with the chronic fatigue syndrome. Abnormalities of sleep in patients with the chronic fatigue syndrome. OBJECTIVE:To determine whether patients with the chronic fatigue syndrome have abnormalities of sleep which may contribute to daytime fatigue. DESIGN:A case-control study of the sleep of patients with the chronic fatigue syndrome and that of healthy volunteers. SUBJECTS:12 patients who met research criteria for the chronic fatigue syndrome but not for major depressive disorder and 12 healthy controls matched for age, sex, and weight. RESULTS:Patients with the chronic fatigue syndrome spent more time in bed than controls (544 min v 465 min, p CONCLUSIONS:Most patients with the chronic fatigue syndrome had sleep disorders, which are likely to contribute to daytime fatigue.

Screening/Detection (see also Mammography) Oldtime Ads Tout Health Benefits of Smoking: Tobacco Industry Had Doctors' Help, July 20, p. 1048

Overview of 5p- Syndrome Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p- Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications. Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, and medical and educational professionals to help the child achieve his or her maximum potential. Years ago, it was common to place children with 5p- Syndrome in institutions with other severely retarded individuals. A small number of children are born with serious organ defects and other life threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.

Ménières syndrome is due to endolymphatic hydrops (glaucoma of the ear! ) and is characterized by a tetrad pressure, discomfort, fullness in the ear fluctuating hearing loss fluctuating tinnitus episodic vertigo. The syndrome may be idiopathic, in which case it is called "Ménières disease", or secondary to various processes that lead to interference with the normal resorption of endolymph, e.g. neurosyphilis (and possibly Lyme disease), following viral infections (sometimes years later), after trauma, with congenital anomalies, etc. Transient ischemic attacks, microvascular compression syndromes, thyroid disease, autoimmune processes (es pecially sarcoid, periarteritis, giant cell arteritis, Susac's and Cogan's syndromes) otosclerosis, perilymphatic fistula, multiple sclerosis, diamox responsive recurrent vertigo and ataxia, vestibular epilepsy and vestibular migraine are also in the list of differential diagnoses. The direction of the spontaneous nystagm us in or following an attack of Ménières syndrome is not a reliable sign of the side of the lesion because there may be an "irritative" phase during the attack (slow phases directed toward uninvolved ear) or there may be a "recovery" nystagmus (as activi ty in the affected ear recovers any central adaptation to the loss of function will become inappropriate, producing a nystagmus with slow phases directed toward the uninvolved ear, until adaptation has caught up with the new state of restored function on the bad side). Occasionally chemoablation (intratympanic gentamycin) or surgical ablation (labyrinthectomy when hearing is already lost, vestibular nerve section when it is not) is necessary for refractory disease but remember that in over 50% of patients Ménières disease becomes bilateral, and that the rates o f spontaneous remission of response to placebo in Ménières disease are also very high.

The 5p- Society encourages and facilitates communication among families having a child with 5p-Syndrome and spreads awareness and education of the syndrome to these families and their service providers. The society provides parent-to-parent matching by age and geographical location. The 5p- Society issues a bi-annual newsletter that is free to members. They have brochures books and articles available, and collect information on physicians who treat and study the condition and make this information available via family support coordinators. From the On-line Mendalian Inheritance in Man data base.

Screening/Detection (see also Mammography) Oldtime Ads Tout Health Benefits of Smoking: Tobacco Industry Had Doctors' Help, July 20, p. 1048

Alliance of Genetic Support Groups Current Directory Family Village Disability-Related Resources National organizations with information on genetic conditions or birth defects - variety of resources Organizations dealing with facial anomalies Professional Genetics Societies Genetic clinics, centers, departments

While most boys with the disease have mental retardation, only 1/3 to 1/2 of the girls have significant intellectual impairment; the rest have either normal IQ or small learning disabilities. Current estimates of its prevalence vary, but some experts believe that Fragile X affects at least 1 in 1,000 males and females of all races and ethnic groups. In either case, Fragile X is one of the most common genetic diseases in humans. This extremely high amount makes Fragile X Syndrome one of the most common inherited diseases in humans. The first twenty-two pairs of chromosomes are the same in both males and females. Gene therapy: studying the gene that causes Fragile X in order to determine whether a healthy gene may be inserted into the DNA of affected individuals, thereby replacing the mutated, ineffective gene.

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The polynomial relationship (P<.001) between mean multiple organ dysfunction (MOD) scores and length of stay in the general surgery intensive care unit (SICU) is shown for the nonsurvivors. Short stays for severely ill or injured patients who succumbed rapidly account for the distribution.

FRAXA supports research aimed at treatment of Fragile X Syndrome and to raise awareness of this disorder, and provides funds for postdoctoral fellowships. They support local groups through their Internet Web site, and will provide parent-to- parent matching for those who wish to share information and live in the same region. FRAXA publishes a quartly FRAXA Newsletter, that is included in a $20.00 membership fee. This listserv covers issues of interest to families, physicians, researchers, and educators, particularly diagnosis and treatment. The listserv will also discuss the latest medical research aimed at treatment. This site includes information about Fragile X Syndrome, past issue excerpts from FRAXA's quarterly newsletter, and a Parent's Guide to Drug Treatment of Fragile X Syndrome.

OBJECTIVE - To describe clustering of hypertriglyceridemia, low HDL cholesterol, hypertension, diabetes, and hyperuricemia and its association with fasting insulin, waist-to-hip ratio (WHR), and BMI for African-American and white men and women. RESEARCH DESIGN AND METHODS - Observed frequencies of clusters were compared with those expected in 14,481 participants, 45-64 years of age, of the Atherosclerosis Risk in Communities (ARIC) baseline survey, 1987-1989. Associations of clusters with insulin, central adiposity, and overall obesity, as well as with individual abnormalities, were analyzed through multiple logistic regression. RESULTS - Clustering beyond chance was observed in all four sex/ethnic groups (P < 0.001), with 7% of the sample presenting 30% of the abnormalities in large clusters ( > 3 abnormalities per individual). Of the abnormalities, hypertriglyceridemia demonstrated the highest OR (5.0-8.8) and diabetes had a lower OR in African-American subjects than in white subjects (P < 0.001). Insulin, WHR, and BMI were statistically associated with clustering in all groups (P < 0.001, except for BMI in African-Americans).

For informations: mail to Ireneo Toffano

Prev update 5th April 1998 ( Changed Italian address. Prev update 23rd March 1998 ( Added Taylor to gallery. Provides support and friendship for families and carers throughout Britain, ( and maybe now internationally ! This is a two day event for professionals, families and other interested parties. It is the chance for families who may not normally be able to see each other to meet and talk. Subscriptions are voluntary for families, and are £5.00 per year.

The 5p- Society (five p minus), a not-for-profit corporation, is the parent support group for families having a child with 5p- Syndrome, also known as Cat Cry Syndrome or Cri du Chat Syndrome. To encourage and facilitate communication among families having a child with 5p- Syndrome and to spread awareness and education of the syndrome to these families and their service providers. The 5p- Society was founded in 1986 by parents of children with 5p- Syndrome, with the intent of spreading information about the syndrome to other families, and providing the opportunity to meet and share common experiences. Current membership is over 400 families. They can put you in touch with other families in your geographic area or with another family having a child close in age to your child. This is an opportunity to meet other families and professionals with similar experiences.

NOTE: Unless otherwise indicated, the area code is (301).

This departmental site is under construction, and maintained by Arik. Please email me any suggestions, corrections, etc. Click here to go back to the BIU Home Page.

Back to previous level Beckwith-Wiedemann Syndrome Search PUBMED for articles on Beckwith-Wiedemann Syndrome:    All    Review    Therapy    Diagnosis U. of Utah Webpath:Down syndrome, facial features, gross U. of Utah Webpath:Trisomy 21 (47, XY, +21) karyotype, diagram Med. of Wisconsin:Wormian bones U. of Utah Webpath:Hand, simian crease, gross Monash:How to treat people with Down Syndrome OMIM:Chromosome 21 Gene Map OMIM:Trisomy 21 Umea U, Sweden:Expert system for Down's Syndrome Umea U, Sweden:Description of Down's Syndrome U. of Washington:Karyotype of Trisomy 21 Hosp.    All    Review    Therapy    Diagnosis U. of Utah Webpath:Cerebrum, coronal section, holoprosencephaly, gross U. of Utah Webpath:Holoprosencephaly, gross Cedars-Sinai Medical Center:Holoprosencephaly Prader-Willi Syndrome Search PUBMED for articles on Prader-Willi Syndrome:    All    Review    Therapy    Diagnosis U. of Utah Webpath:Trisomy 16 with single X chromosome 46, X, +16 karyotype, diagram Angelman Syndrome Search PUBMED for articles on Angelman Syndrome:    All    Review    Therapy    Diagnosis U. of Reading:Angelman Syndrome Last update: 04/06/98

Updated 05-Feb-98: Fixed defective link in Contents. I live with my mommy (Sherry) and my brother (Brandon) in Madison next to Huntsville, Alabama, deep in the Heart of Dixie and home of the famous Space and Rocket Center. Picture Gallery Hobbies My Friends "Bubba" Brandon Cri du Chat Syndrome Fun things to do on the Web Miscellaneous URL-Minder (be notified by email when this web page changes - for free! ) Guestbook (please sign our guestbook)   Top | The Cri Du Chat Syndrome Support Group (CDCSSG) provides support and friendship for families and carers; raises awareness of Cri Du Chat Syndrome amongst the medical profession and the public. 5p- Society (five p minus), a not-for-profit corporation, is the parent support group for families in the United States having a child with 5p- Syndrome, also known as Cat Cry Syndrome or Cri du Chat Syndrome.

(CSA/USA) ( Celiac Sprue) CSC (CSC) (Syndromes of the cerebellum Ataxia Joseph Disease Olivo-ponto-cerebelar atrophy) United Cerebral Palsy Association, Inc. (PPI) ( Cleft Lip/Palate) Cleft Palate Foundation (CPF) ( Cleft Palate) Share and Care Cockayne Syndrome Network (Cockayne Syndrome Xeroderma Pigmentosum) Coffin-Lowry Syndrome Foundation (CLSF) ( Coffin-Lowry Syndrome) Coalition for Heritable Disorders of Connective Tissue ((CHDCT) Connective Tissue Disorders Marfan Syndrome) Thalassemia Action Group (TAG) (Thalassemia Thalassemia minor Thalassemia major Thalassemia intermedia Beta - Thalassemia Cooley's Anemia) AHEPA Cooley's Anemia Foundation, Inc. (CdLS) ( Cornelia de Lange Syndrome) Agenesis of the Corpus Callosum Network (ACC Network) (Corpus Callosum Abnormalities, including Agenesis, Dysgenesis, Malformation, Underdevelopment of the Corpus Callosum; Agenesis of Commissura Magna Cerebri) About Face U.S.A. (Facial Anomalies Cleft Lip/palate Crouzon Apert Treacher-Collins Hemangioma Cystic Hygroma) Children's Craniofacial Association (CCA) (Craniofacial Anomalies Facial Disfigurement) FACES, National Association for the Craniofacially (Handicapped (FACES) Craniofacial Anomalies Facial Anomalies) Craniofacial Foundation of America (CFA) ( Craniofacial Anomalies) Let's Face It, Inc. (NPPSIS) Disabilities, general Rare disorders) National Self-Help Clearinghouse ( Any Disabilities) Association for Persons With Severe Handicaps ( Any Disabilities) National Center for Youth with Disabilities (NCYD) (Adolescents with Chronic IIlnesses Adolescents with Disabilities) Friends Health Connection (FHC) ( Any Disability) Parents Helping Parents (General Disability Children with Special Needs Tuberous Sclerosis) Association for Children with Down Syndrome, Inc. (FRAXA) ( Fragile X Syndrome) Freeman-Sheldon Parent Support Group (FSPSG) (Freeman-Sheldon Syndrome Whistling Face Syndrome Craniocarpotarsal Dysplasia) Parents of Galactosemic Children (PGC) ( Galactosemia) International Patient Advocacy Association (IPAA) (Gaucher Disease Rare Disorders) National Gaucher Foundation (NGF) ( Gaucher Disease) National Genealogical Society (NGS) ( Genealogical education & support) National Society of Genetic Counselors, Inc. (IOD) (Hemochromatosis Thalassemia Iron Overload Porphyria) International Joseph Diseases Foundation, INC (IJDF) (Joseph Disease Machado-Joseph Disease Spino Cerebellar Ataxia type 3 (SCA 3)) Joubert Synd Parents-In-Touch Network, Inc (JSPITN) ( Joubert Syndrome) American Association of Kidney Patients (AAKP) ( Kidney Disease) National Kidney Foundation ( Kidney Disease) Polycystic Kidney Research Foundation (PKR Foundation) ( Polycystic Kidney Disease) Klinefelter Syndrome and Associates, Inc.

The 5p- Society encourages and facilitates communication among families having a child with 5p-Syndrome and spreads awareness and education of the syndrome to these families and their service providers. The society provides parent-to-parent matching by age and geographical location. The 5p- Society issues a bi-annual newsletter that is free to members. They have brochures books and articles available, and collect information on physicians who treat and study the condition and make this information available via family support coordinators. From the On-line Mendalian Inheritance in Man data base.

This turns it into a file that the computer can read. Ask them to save it on to a disk, preferably as a GIF, BMP, JPG, or PCX file. You should be able to send me your picture as an 'attachment' which you send attached to e-mail. Also, in the e-mail, put the words that you want to go with the picture. When I get it as an e-mail, I will then save the attached picture in my space on the server, and put a link to it from this page. ( NOTE: If you use Netscape, the pictures sometimes look much better if you use the 'view image' selection from the right-click-menu when you are viewing the picture.

  The Chromosome Laboratory is a project group within the Department of Medical Genetics at IMBG. Several areas are actively being researched, including : Cancercytogenetics Cri-du-chat Mapping of chromosome 5p FISH-analysis Resources Staff index Chromosome relevant links Please note that this site is being reconstructed and that some links and functions are not yet implemented. Lost or forgot that important email address ? People Finder will help you locate any staff member at IMBG. Write Us if you have any questions, comments or suggestions.

Note that the extent of the deletion on chrompsome 5 has been exaggerated for the sake of clarity* Be sure that you know the symptoms that accompany each of these karyotypes! Please notify sdclark of any problems with this page or this site. This page was last updated on 1/23/96 at 12:00PM

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Syndrome : meaning a whole of characteristics/symptoms  caused by a mechanism, but depending on several different causes. Cri Du Chat, literally meaning "cat cry", is also used to designate a syndrome with a special signal : the newborn child has its crying strident as a cat's. Emergin in the cultural scene as a shop where sculptures and installation gave way to records and videos of electro/industrial groups, musical styles not much disseminate until that time. Cri Du Chat activities pointed to the birth of a new musical scene, stimulating projects, supporting bands, etc . Believing in this growing, specific scene, Cri Du Chat became a record label, releasing works from artists turned to electro/industrial and forming a really independent web to support it. The label has a good distribution web inside and outside Brazil ( record shops and distributors in Mexico, USA, Australia, Japan and Europe ), supported by MTV Brazil, newspapers, magazines, radio programs, etc.

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Alliance of Genetic Support Groups Current Directory Cri Du Chat Syndrome Support Group - United Kingdom Online information from OMIM (includes sound recording of cry) Family Village Disability-Related Resources National organizations with information on genetic conditions or birth defects - variety of resources Professional Genetics Societies Genetic clinics, centers, departments

The 5p- Society encourages and facilitates communication among families having a child with 5p-Syndrome and spreads awareness and education of the syndrome to these families and their service providers. The society provides parent-to-parent matching by age and geographical location. The 5p- Society issues a bi-annual newsletter that is free to members. They have brochures books and articles available, and collect information on physicians who treat and study the condition and make this information available via family support coordinators. From the On-line Mendalian Inheritance in Man data base.

Re: Cri di chat syndrome Posted by Becki Watt on October 23, 1997 at 05:21:56: In Reply to: Re: Cri di chat syndrome and Dandy walker syndrome posted by Becki Watt on October 23, 1997 at 05:13:52: In regards to : : Cri du Chat syndrome my son has this syndrome and it is not characterized by dwarfism. These children with the right kind of up bringing and intervention can really prove the medical journals wrong. : : : : In regards to : : Cri du Chat syndrome my son has this syndrome and it is not characterized by dwarfism. These children with the right kind of up bringing and intervention can really prove the medical journals wrong.

Per informazioni: mail to Ireneo Toffano

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P5102-B.5 100 µl (10 slides) DNA Probes for 5p- Syndrome Research Cri Du Chat Syndrome is characterized by growth failure, microcephaly, facial abnormalities, and severe retardation. Most of the cases are due to a deletion of 5p (distal 5p14 or proximal 5p15) and ten to fifteen percent of the cases have inherited a deleted 5p chromosome from a parent with a reciprocal translocation involving chromosome 5p. The frequency of 5p deletion among approximately 60,000 unselected newborns was approximately 1:20,000 (Buyse, M.L., 1990). The Oncor D5S23 Chromosome 5p15.2-Specific Probe is intended for research use in identifying a deletion in the area of D5S23 by fluorescence in situ hybridization (FISH) in metaphase chromosomes from cell lines or cultured peripheral blood cells. The Oncor D5S23 Chromosome 5p15.2-Specific Probe will give a normal in situ result (signal on both chromatids of both homologues) in samples which have a smaller deletion than is detectable by the probe, point mutations, or other genetic etiologies. A non-deleted sample should show signal on both homologues with the D5S23 probe, in seventy to ninety percent of the cells analyzed. A deleted sample will show signal on only one homologue with the D5S23 probe.

Prev update 5th April 1998 ( Changed Italian address. Prev update 23rd March 1998 ( Added Taylor to gallery. Provides support and friendship for families and carers throughout Britain, ( and maybe now internationally ! This is a two day event for professionals, families and other interested parties. It is the chance for families who may not normally be able to see each other to meet and talk. Subscriptions are voluntary for families, and are £5.00 per year.

When Charlotte was born, we didn't know if we could look after her. Social services suggested that Charlotte should stay with foster parents for a while, to give us some time. Charlotte went to her foster parents, Mike and Sue, for four months. For every 'little angel' With a body bent and broken Or a little mind retarded Or little words unspoken Is just God's way of trying To reach and touch the hand Of all who do not know him And cannot understand That often through an angel Who's wings will never fly The Lord is pointing out the way To his eternal sky Where there will be no handicaps Of body, soul or mind And where all limitations Will be dropped and left behind. So accept these 'little angels' As gifts from God above And thank him for this lesson In Faith and Hope and Love. ( Mike and Sue are now Uncle Mike and Aunty Sue, Charlotte's respite parents.

 Search here, or use Galaxy's advanced search for more options. For advertising sales, contact admgr@tradewave.com.

Syndrome : meaning a whole of characteristics/symptoms  caused by a mechanism, but depending on several different causes. Cri Du Chat, literally meaning "cat cry", is also used to designate a syndrome with a special signal : the newborn child has its crying strident as a cat's. Emergin in the cultural scene as a shop where sculptures and installation gave way to records and videos of electro/industrial groups, musical styles not much disseminate until that time. Cri Du Chat activities pointed to the birth of a new musical scene, stimulating projects, supporting bands, etc . Believing in this growing, specific scene, Cri Du Chat became a record label, releasing works from artists turned to electro/industrial and forming a really independent web to support it. The label has a good distribution web inside and outside Brazil ( record shops and distributors in Mexico, USA, Australia, Japan and Europe ), supported by MTV Brazil, newspapers, magazines, radio programs, etc.

Prev update 5th April 1998 ( Changed Italian address. Prev update 23rd March 1998 ( Added Taylor to gallery. Provides support and friendship for families and carers throughout Britain, ( and maybe now internationally ! This is a two day event for professionals, families and other interested parties. It is the chance for families who may not normally be able to see each other to meet and talk. Subscriptions are voluntary for families, and are £5.00 per year.

Wath is the Cri-du-chat syndrom For informations: mail to Ireneo Toffano

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Kristian Emil Kristoffersen, query: cri du chat syndrome Alice Harman, Software for Dictionaries Pierre-Yves Foucou, Q: Alphabetic Order Message 1: query: cri du chat syndrome Kristian Kristoffersen Kristian Emil Kristoffersen Department of Scandinavian studies and comparative literature P.O. Box 1001 Blindern, N-0315 Oslo, Norway e-mail: kristof@hedda.uio.no phone: +47-22 85 76 34 fax: +47-22 85 71 00 Institutt for nordistikk og litteraturvitskap Boks 1001 Blindern, N-0315 Oslo e-mail: kristof@hedda.uio.no telefon: 22 85 76 34 faks: 22 85 71 00 Can someone recommend good software, MAC, for producing dictionaries, both TL-English, English-TL, and TL. Dear linguists, I am looking for hints about when, and maybe why, the alphabetical order was defined. Regards, - ~~~~ Foucou Pierre-Yves ~~~ ~~ Institut Gaspard Monge foucou@univ-mlv.fr ~ ~ ~ Universite de Marne la Vallee~ p412 DII ~~ ~~ 2 rue de la butte verte ~ ~ 49 32 60~55 ~ ~ ~~~ ~~ ~ ~ ~ 93166 Noisy Le Grand ~ ~ ~ ~ ~ ~ ~ ~ ~ ~~ ~~ ~ ~ ~~~ ~ France ~ ~ ~ ~ ~~ ~ ~ ~ ~ ~ http://www-igm.univ-mlv.fr/~foucou/ ~ ~ ~ ~ ~ ~~ ~ ~ ~ ~ ~~ ~ ~ ~~ ~ ~~ ~ ~~~ ~ ~ ~ ~ ~ ~

Project groups: Genome group/RC-link Resourcecenter for Linkage analysis Psoriasis Astma, hay fever Enuresis Migraine Common traits (such as eye colour, hair colour etc. ) Eye diseases (cataract, opticus atrophy, Groenouw I) Brain diseases (common psychiatric disorders: depression) NIDDM Scientific staff: ScientistTitleE-mailprojects Hans Eiberg cand.scient he@rclink.imbg.ku.dk Genetic linkage, RC-LINK Kirsten Fenger cand.stat fenger@medgen.imbg.ku.dk - Lis Hasholt cand.scient hasholt@medgen.imbg.ku.dk - Bodil Lomholt mag.scient - rRNA Jan Mohr prof.emeritus 100445.133@compuserve.com Eurofap Erik Niebuhr dr.med erik@chrom.imbg.ku.dk Cri du chat, Cromosome 5p Kirsten V. Nielsen cand.scient kirsten@chrom.imbg.ku.dk CGH, FISH, in situ Sven A. Sørensen dr.med sasorensen@medgen.imbg.ku.dk Huntingtons chorea Niels Tommerup prof tommerup@biokemi.imbg.ku.dk - Claus Hansen Ph.D. cph@biokemi.imbg.ku.dk - Zeynep Tümer cand.scient tommerup@biokemi.imbg.ku.dk - Annelise Wandall mag.scient al.wandall@biokemi.imbg.ku.dk Chromosome centromer study Karen Girke Secretary kgirke@medgen.imbg.ku.dk - Hanne Holm Secretary hh@biokemi.imbg.ku.dk - Christine Nellemann Ph.D. student nelle@medgen.imbg.ku.dk - Kirsten Madsen Ph.D. student kmadsen@medgen.imbg.ku.dk - J

We also wanted to say thank you to Mike and Sue for everything they have done for us. Mike and Sue had already opened their hearts and home to Anne and Dawn, two young adults with special needs. Mike and Sue also have two children of their own, Lisa and John, both of who work with mentally handicapped adults. We spent many hours talking with them about what was best for Charlotte, but Mike and Sue never tried to persuade us one way or the other. There aren't many people like Mike and Sue, we will always be grateful to them and thank them for their care and support. As Mike and Sue predicted, Charlotte walked when she was 4 years old, can say 2 words and now has an extensive vocabulary of Makaton - a type of sign language.

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Répertoire de groupes d'entraide Avis: la mention d'une ressource dans ce répertoire ne témoigne pas de sa validation par l'hôpital Sainte-Justine * B C D E F G H I J K L M N O P Q R S T U V W X Y Z Aaron's Tracheostomy Page Trachéostomie AboutFace International Malformation craniofaciale Action intégration Brossard Déficience intellectuelle Al-Anon, Alateen Alcoolisme Service d'écoute téléphonique Al-Anon et Alateen - Région de Québec Alcoolisme Service d'écoute téléphonique Alliance des familles affectées par VHL Maladie de Von Hippel Lindau Alliance familiale VHL Maladie de Von Hippel Lindau American Support Group 5p- Society (Cri-du-chat) Syndrome du Cri-du-chat Amis compatissants du Québec (Les) Deuil Amis de la déficience intellectuelle Rive-Nord (Les) Déficience intellectuelle Amis de la santé mentale, Banlieue Ouest Troubles mentaux APPEVE - Association des parents et personnes ayant une exstrophie vésicale et/ou un pispadias Exstrophie vésicale Association CMT-France Maladie neuromusculaire Association CMT-Québec Section locale de la grande région du Grand Montréal Maladie neuromusculaire Association canadienne de l'ataxie de Friedreich Ataxie Association canadienne de la dystrophie musculaire - Division du Québec Maladie neuromusculaire Association canadienne des paraplégiques Paraplégie Quadriplégie Association canadienne du diabète Diabète Association canadienne du syndrome de Marfan Syndrome de Marfan Association canadienne pour la santé mentale - Division du Québec Santé mentale Association canadienne pour la santé mentale - Filiale de Montréal Santé mentale Association canadienne pour les personnes qui bégaient Bégaiement Association d'iléostomie et de colostomie de Montréal Stomie Association d'information sur les allergies et l'asthme Allergie Asthme Association de l'ostéogénèse imparfaite Ostéogénèse imparfaite Association de l'ouest de l'

5) EXERCISE Description Numbers 1) DESIRABLE WEIGHT TABLE AHA Recommendation For more information, please refer to the DESIRABLE WEIGHT TABLE on the American Heart Association's website. Height feet/inches Women Small frame pounds Women Medium frame pounds Women Large frame pounds Men Small frame pounds Men Medium frame pounds Men Large frame pounds 4'10" 92-98 96-107 104-119 N/A N/A N/A 4'11" 94-101 98-110 106-122 N/A N/A N/A 5'0" 96-104 101-113 109-125 N/A N/A N/A 5'1" 99-107 104-116 112-128 N/A N/A N/A 5'2" 102-110 107-119 115-131 112-120 118-129 124-141 5'3" 105-113 110-122 118-134 115-123 121-133 129-144 5'4" 108-116 113-126 121-138 118-126 124-136 132-148 5'5" 111-119 116-130 125-142 121-129 127-139 135-142 5'6" 114-123 120-135 129-146 124-133 130-143 138-156 5'7" 118-127 124-139 133-150 128-137 134-147 142-161 5'8" 122-131 128-143 137-154 132-141 138-152 147-162 5'9" 126-135 132-147 141-158 136-145 142-156 151-170 5'10" 130-140 136-151 145-163 140-150 146-160 155-174 5'11" 134-144 140-155 149-168 144-154 150-165 159-179 6'0" 138-148 144-159 153-173 148-158 154-170 164-184 6'1" N/A N/A N/A 152-162 158-175 168-189 6'2" N/A N/A N/A 156-167 162-180 173-194 6'3" N/A N/A N/A 160-171 167-185 178-199 6'4" N/A N/A N/A 164-175 172-190 182-204 Source: American Heart Association 2) CHOLESTEROL LEVELS AHA Recommendation For more information, please refer to CHOLESTEROL LEVELS on the American Heart Association's website. 240 mg/dL and over - High blood cholesterol HDL cholesterol Less than 35 mg/dL - Low HDL cholesterol Source: American Heart Association 3) BLOOD PRESSURE LEVELS Classification of blood pressure for adults age 18 years and older. Heart Rate 100 % 20 years 100-150 beats per minute 200 30 years 95-142 beats per minute 190 70 years 75-113 beats per minute 150 Your maximum heart rate is approximately 220 minus your age.

H A R D B I N A R Y F U S I O N S Formed in July of 1995, Biopsy is a totally Fabricio Viscardi and Guilherme Pires, known by their work on other electronic band named A fusion of E.B.M., crossover, industrial, tekkno and ambient sounds generates the Biopsy structure. Their firsat album entitled NERVATE is out now by Cri Du Chat Disques. Musically Biopsy influences are electronic body music, industrial, crossover, tekkno and ambient music. The groups thata were definitely important to the existence of Biopsy are : Front 242, Front Line Assembly, Leaether Strip, Skinny Puppy, Swamp Terrorists, Intermix and Delerium.

 I take no credit or blame for what is contained in these articles.   A myth is buried: Fibromyalgia is not a disease of the young. 63 Issue 4, p11, 2p Alpha-delta sleep in patients with a chief complaint of chronic fatigue. 2 Issue 2, p4, 2p, 1bw Fibromyalgia: A misdiagnosed & misunderstood syndrome. 4 Issue 2, p165, 3p Management of fibromyalgia: Rationale for the use of magnesium and malic acid. 48 Issue 4, p53, 1p, 1c Restless legs syndrome and leg cramps in fibromyalgia syndrome: A controlled study.

"There is No Cure for Muscular Skeletal Injuries, Only BODY MAINTENANCE."

Over 300 new STS's have been generated from flow sorted human chromosome 5 DNA. Our primary focus is the generation of a YAC contig of 5p, centered on the regions associated with the Cri-u-Chat Syndrome. Cri-du-Chat is the most common human terminal deletion syndrome (1/45,000 births). Clinical features include growth and mental retardation, microcephaly, hypertelorism, epicanthal fold, and the characteristic high pitched cat like cry. A correlation between clinical features and chromosome deletion patterns has led to the identification of two regions of the short arm that appear to be crucial for the manifestation of the complete Cri-du-Chat phenotype. Loss of a small region in 5p15.2 (Cri-du-Chat critical region) correlates with all the clinical features of the syndrome with the exception of the cat-like cry, that maps to the 5p15.3 (cat-like cry critical region).

Randomized trials comparing coronary angioplasty with bypass surgery in patients with multivessel coronary disease have shown no significant differences in overall rates of death and myocardial infarction. We compared quality of life, employment, and medical care costs during five years of follow-up among patients treated with angioplasty or bypass surgery. A total of 934 of the 1829 patients enrolled in the randomized Bypass Angioplasty Revascularization Investigation participated in this study. Patients in the angioplasty group returned to work five weeks sooner than did patients in the surgery group (P<0.001). The five-year cost of angioplasty was significantly lower than that of surgery among patients with two-vessel disease ($52,930 vs. The following institutions and investigators participated in the Study of Economics and Quality of Life substudy of the BARI trial: University of Alabama at Birmingham -- W. Rogers, W. Baxley, L. Dean, G. Roubin, G. Zorn, G. Duke, S. Brewer, W. Lowe, E. Charles, L. Carr, L. Maske, and A. McCarroll; Boston University -- T. Ryan, M. Mazur, J. Brush, D. Faxon, and B. Hankin; Cleveland Clinic Foundation -- P. Whitlow, M. Lincoff, E. Topol, K. Comella, B. Healy, A. Rogers, J. Tedrick, E. Griffin, L. Webster, and K. Schaffer; Duke University -- D. Mark, R. Califf, D. Fortin, J. Grinnell, M.A. Sellers, L. Drew, V. Bass, D. Frid, E. Hampton, H. Gessner, L. Hicks, T. Daniels, E. Griffin, and B. Bacon; Mayo Clinic -- G. Reeder, H. Smith, M. Mock, L. Pierre, F. Nobrega, and R. Vlietstra; University of Michigan -- B. Pitt, M. Stock, K. McNeely, P. Fox, K. Burek, H.-L. Shu, L. Belzowski, J. Collins, and T. Johnson; St.

as he who has felt S P O N S O R E D    B Y    M E N T A L    H E A L T H    N E T This guide has been developed to act as your starting point for exploring real-life support groups and networks that are available throughout the world and in your community. (For online resources for support topics, please consult the Self-help Resources room. ) The organizations listed in this directory can help you find and/or start a support group in your community. To find self-help organizations and groups, enter keywords for a particular type of problem. For instance, if you're interested in finding support organizations for "depression" or "alcohol recovery," simply enter those words:

page maintained by mutzel@mpi-sb.mpg.de> Document last changed on Tuesday, 24 March 98 - 14:55

Idealizada por Eneas Neto (jornalista e apresentador do programa Zensor/FM 97) e Alexandre Twin (proprietário da loja Muzik e integrante do grupo Individual lndustry), a Cri du Chat Disques já editou vários CD's, cassetes e LP's de artistas que dificilmente encontrariam outro lugar para divulgação de seus trabalhos no Brasil.

Select the desired language to continue Seleccione un lenguaje para continuar Usted es el visitante N

American College of Nurse-Midwives - Contains information about nurse-midwifery practice, how to find nurse-midwives, ACNM chapters, nurse-midwifery educat American Journal of Nursing - AMIA Nursing Informatics Working Group - Ann Williams: IV Nurse Consultant - Provides in house training on IV services and consulting services of P&P, QC and proceedures. AORN Online - the professional organization of perioperative nurses that unites its members by providing education, representation, Buckinghamshire College of Nursing and Midwifery - Cartmel Nursing Development Unit - Six practice development booklets Dallas/Fort Worth Nursing On-Line - links to online journals, job listings and educational resources for student nurses Dee's Pain Management Page - information and current research on nursing management of acute pain Department of Nursing, University of South Dakota - Nursing Department Education Enterprises - a company belonging to Laura Gasparis Vonfrolio, RN, PhD, CEN, CCRN. Laura is a prodigious and dynamic educatior for cri Emergency Nursing World - resource for emergency nursing, and other hospital-based and pre-hospital emergency care professionals Firstat Nursing Services - Florence Nightingale - a tribute to the nursing pioneer Gaia's Homepage - resources for the nursing and medical student GoodNews NetWork - info about home birth, domiciliary midwives, legal issues, religious practitioners of midwifery and Catching People Be Idea Nurse - business name for Peter Ramme RN CEN CCRN a nurse computer trainer and consultant with over a decade of experience in se Index - Hardin Meta Directory - Nursing - Index - Midwives' WWW Sites of Interest - Index - NetNurse - Nursing and related links. Lakeman, Richard - Drug Calculations Simulation Software MacNursing - demos, shareware and freeware of interest to nurses, nurse managers, nursing students, and others who work in healthca Marilyn's Midwifery Page - Martinuzzi, Luba, RN - 17 yrs exp, open to enquiries McMaster University - School of Nursing - information about the school, research units as well as nursing and related internet resources MedEdCon, Ltd. - On-line continuting education and nursing consulting Medway Online Continuing Education - Affordable, convenient online continuing education for healthcare professionals. Nursing Network Forum - Oncology Nursing Society - Largest Oncology Nursing Organization worldwide, with over 25,000 members interested in providing the best cancer care United Care-cepts, Inc - We produce System.1, a software package for visiting nurses, that provides patient teaching tools. of Minnesota - School of Nursing - offering four degree options - BSN, MSN, PhD, and RN/BSN/MS University Hospital Eppendorfin - Hamburg, Germany - information about its work, the nursing education in Germany and other interesting topics. University of Akron - College of Nursing - Usenet - sci.med.midwifery - VirtualNurse - moderated specialty nursing chats, message boards, guestbooks and conferencing - Red Ribbon Chat, a live chat room within 16 other nursing chat rooms at VirtualNurse.

HIV-1 immunogen induction of HIV-1-specific delayed-type hypersensitivity: results of a double-blind, adjuvant-controlled, dose-ranging trial. 1993 Development and validation of a polymerase chain reaction method for the precise quantitation of HIV-1 DNA in blood cells from subjects undergoing a 1-year immunotherapeutic treatment. T cell receptor Vß repertoire In HIV-infected individuals: lack of evidence for selective Vß deletion. Cell-Mediated Immunity to HIV-1 in Walter Reed stages 1-6 Individuals:Correlation With Virus Burden.

Literalmente Cri Du Chat significa "grito do gato". Em termos biológicos corresponde a uma mutação no ser humano : a deleção do braço menor do cromossomo 5 causando má formação do aparelho fonador. O nome é justificado pelo fato do choro do portador ser similar ao miado estridente de um gato. Por acreditar na possibilidade de um campo inédito no Brasil, a loja tornou-se uma gravadora lançando artistas que desenvolvem trabalhos musicais exclusivamente na área de música eletrônica e apostando na segmentação do mercado brasileiro, contribuiu para o surgimento de uma rede realmente independente e viável.

Moore GW, Benninghoff WS, Dwyer PS: A computer method for the arrangement of phytosociological tables. Moore GW, Hutchins GM, Bulkley BH: Certainty levels in the nullity method of symbolic logic: Application to the pathogenesis of congenital heart malformations. Moore GW, Hutchins GM, Miller RE: Strategies for searching medical language text: Distribution of words in the anatomical diagnoses of 7000 autopsied patients. Moore GW, Hutchins GM, de la Monte SM: Lattice theory approach to metastatic disease in autopsied human patients: Application to metastatic neuroblastoma. Moore GW, Hutchins GM, Miller RE: Examination of disease names using non-Abelian symbolic logic. Erickson AM, de la Monte SM, Moore GW, Hutchins GM.

Vocations Comment trouver sa voie Accès Internet Les marches de la cité virtuelle PRCA Projet Cadre de Recherche Appliquée - Aménagement du territoire, Développement local, Prévention des risques Le CRI Collectif de Recherche sur l'Immatériel Le CPO Centre de Prospective Opérationnelle APIC Pour accéder à Internet: connexion, web, interactivités. SOYANS aux portes de la Provence Christophe Ney Software Engineer Rencontres, concertations, échanges, travail collectif  Les espaces d'activités : Le Salon de lecture (tous les textes) La Salle des conférences de gestion cri Le Centre d'interactivité cpo Les Forums : Discussions au salon de lecture     Recherche de documents par mot-clé dans le site web coherences.com

Cri du chat oireyhtymä Cri du chat

Our daughter Katie was born 21.10.94. she weighed 5lb 4oz and appeared normal and healthy apart from a high pitched cry. She was found to have a badly dislocated hip and spent her first 15 months in harnesses and plasters. We contacted the support group to find out more and wished we hadn't - this we thought was not Katie, and filed it. We decided to come and in the end, it was myself, my husband Mark, my mum, Marks mum and my sister Vicki who made the journey. We came home feeling very proud of Katie and what she has achieved and determined that next year Katie will walk in on her own two legs.

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Our vision is to help make sense out of the shifting, intensely growing medical information base of the internet . Please Enter your email

Last Updated March 17, 1998 by colantonio@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/card_cd.htm

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Fax number: 313 745-4827 This organization provides_ This information has been generously provided by The Alliance of Genetic Support Groups and hosted by Med Help International

To Join the 5p- Society The 5p- Society maintains a database of families in the United States and Canada for newsletter mailings, meeting announcements, and other informational mailings. Please complete and return this form if you would like to join our organization or have a change of information. I/we want to join the 5p- Society and give permission to have the following information included in the 5p- Society listing and to allow the 5p- Society to share this information with other families in the organization and to other interested professionals. MM/DD/YY My interest in the 5p- Society is as a: ____ Parent ____Grandparent ____ Professional ____Other ____________________ I found out about the 5p- Society through: ____ Professional Referral ____ Disability Directory ____ Another Parent ____ Other ____________________ Signature ______________________   D ate ____________ Yes, I want to help the 5p- Society continue their family support and educational initiatives. Enclosed is my donation of: ____ $10   ____ $50   ____ $25   _________ The 5p- Society is a 501(c) 3 not-for-profit corporation; your contributions are tax deductible.

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A congenital disorder caused by chromosome 12p tetrasomy in affected cells resulting in distinct craniofacial features and neurological manifestations. also called Killian/Teschler-Nicola Syndrome, Pallister Mosaic Syndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the phenotypic features are due to the presence of four copies of chromosome 12p in affected cells the presence of the isochromosome 12p gives 4 copies of chromosome 12p in the affected cells profound hypotonia at birth which persists seizures usually beginning in infancy developmental delay hypotonia with joint contractures developing between 5-10 years of age minimal speech development mental retardation (usually profound) sensorineuronal hearing loss bitemporal sparsity of scalp hair which grows in by 2-5 years sparse eyebrows and eyelashes prominent high forehead progressive coarsening of the facies prominent cheeks large ears with thick protruding lobules eyes: hypertelorism epicanthal folds upslanting palpebral fissures strabismus ptosis nose: flattened nasal bridge short nose anteverted nares mouth: high-arched palate long philtrum with thin upper lip with a cupid-bow shape protruding lower lip delayed dental eruption failure to thrive postnatal deceleration of length and head circumference generalized pigmentary dysplasia sparse hypopigmented macules streaks of hyper- and hypopigmentation accessory nipples laryngomalacia gastroesophageal reflux cataracts congenital heart defects diaphragmatic hernia diagnostic skin fibroblast chromosomes show either a mosaic or total tetrasomy for chromosome 12p FISH (fluorescent in situ hybridization) may be used with specific chromosome 12 DNA probes to detect isochromosome 12p prenatal diagnosis is possible using amniocentesis or chorionic villus sampling chromosomes obtained from peripheral blood are usually normal but there may be a lymphocyte mosaicism for an isochromosome of 12p in some patients

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