21. Carolina Fragile X Project A series of studies examining the impact of fragile X syndrome (FXS) on individuals, families and the agencies that serve them. http://www.fpg.unc.edu/~fx/

a series of studies examining the impact of fragile X syndrome (FXS) on individuals, For more information about Fragile X, please visit our new web site. HOMEPAGE FX OVERVIEW RESEARCH ... RESOURCES This web site is designed to increase public awareness and understanding of young children with fragile X syndrome (FXS). Visitors to our site can expect to: Learn about the effects of FXS on young children Read summaries of FXS research studies and findings Learn about the experiences of families of children with FXS Better understand the behavior of children with FXS Read about intervention strategies for children with FXS Learn more about services available for children with disabilities Find out how to advocate for services The Carolina Fragile X Project is located at the FPG Child Development Institute , one of the nation's oldest multidisciplinary centers for the study of young children and their families. Research and education activities of the Institute focus on child development and health, especially factors that may put children at risk for developmental problems.

22. Fragile X Syndrome: Definition From Answers.com n. An inherited disorder caused by a defective gene on the Xchromosome and causing mental retardation, enlarged testes, and facial abnormalities in males and mild or no http://www.answers.com/topic/fragile-x-syndrome

23. Fragile X Syndrome Fragile X Syndrome. Fragile X is the second most common form of genetic mental retardation, second to Downā€™s syndrome, and the most common type of familial mental retardation. http://pedclerk.bsd.uchicago.edu/fragilex.html

Fragile X Syndrome Fragile X is the second most common form of genetic mental retardation, second to Down’s syndrome, and the most common type of familial mental retardation. Fragile X has a frequency of around 1 in 1500 males and about 1 in 2000 to 4000 of the general population (females included). The carrier rate of the fragile X gene is thought to be around 1/163 to 1/1538. Generally, males are affected, but occasionally females can be affected as well. Fragile X syndrome is named for an unstable, or fragile site on the X chromosome that can be seen when the cells are karyotyped on folate deficient medium. It was subsequently discovered that the Fragile X gene is located on the distal long arm of the X chromosome at Xq27.3 Clinical Features Fragile X syndrome in affected adult males is associated with: Mental retardation-Males 30-50, females 70's Large body size Macro-orchidism Long face Prominent jaw Large ears Autistic behavior-poor eye contact, stereotypic movements Attention deficit-hyperactivity disorder-often diagnosied because of poor attention and increased activity Speech and language problems Genetics Fragile X is caused by an unstable trinucleotide repeat of the series CGG at the FMR1 gene (familial mental retardation) region on the long arm of the X chromosome. Normal unaffected individuals have between 5 to 50 ( average is about 29) CGG triplet repeats in the FMR1 promoter region. In unaffected but pre-mutated patients, there were found to be up to 200 repeats. Affected patients have >200 to thousands of CGG trinucleotide repeats. The number of CGG repeats, along with the degree of methylation of this gene determine the phenotype of the affected individual. The Fragile X phenotype results from a loss of function of a protein, and not from the production of an abnormal protein in this gene region.

24. Maryland Fragile X Resource Group A community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. Includes news, upcoming events, and resources. http://www.mdfragilex.org/

Blink('prem_hint'); New Lending Library Events Family Fun Gene Buddies Golf Tournament Guestbook Lending Library Links Meeting Minutes MDFX Inc News NewsLetters Resources VolleyBall 4th VB Classic Welcome to the Maryland Fragile X Resource Group The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. We are a very active group providing mutual support and education, promoting awareness of Fragile X and actively participating in funding research on Fragile X. The group was founded in August of 1999 and currently supports 80 families. We welcome all who share this common interest and hope that you find the information presented on this site beneficial. What is Fragile X? Fragile X Syndrome is now recognized as the leading hereditary cause of developmental and learning disabilities. Approximately 1/400 individuals in the general population are believed to carry the gene for the condition. Males are usually more severely affected than females. While most boys have mental retardation, one-half to two-thirds of girls have normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes.

25. InteliHealth: Fragile X syndrome is an inherited disorder associated with mental retardation and a particular appearance. It is caused by an error in a small piece of the DNA (genetic blueprint http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9603.html

chrome_imgPreload('gifChr_mid_but_home_mo_1','http://www.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_comm_mo_2','http://www.intelihealth.com/i/C/Chr_mid_but_comm-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://www.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://www.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://www.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://www.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_7','http://www.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_8','http://www.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); chrome_imgPreload('gifChr_mid_but_SiteMap_mo_9','http://www.intelihealth.com/i/C/Chr_mid_but_SiteMap-o.gif'); Fragile X Syndrome What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Fragile X syndrome is an inherited disorder associated with mental retardation and a particular appearance. It is caused by an error in a small piece of the DNA (genetic blueprint) for the

26. Fragile X Syndrome Pediatric Oncall Information presented about Fragile X Syndrome, including the diagnoses and clinical manifestations. http://www.pediatriconcall.com/fordoctor/diseasesandcondition/fragile_x.asp

ISSN 0973 - 0958 Search Doctor Corner Parents Corner Child Corner Articles ... Medical Advice User Name Password Remember Me New User Register Forgot Password ? Change Password Get Diagnosis ... Medical Quiz New Sections Video Podcast Audio Cast Mobile(WAP) Pedi Poll Should miilk derived from cows given growth hormone injections be used in children_? Yes No Translate This Page Select To Translate English To Spanish English To French English To German English To Italian English To Dutch English To Portuguese English To Arabic English To Greek English To Japanese English To Korean English To Russian English To Chinese(Sim) English To Chinese(Tra) FRAGILE X SYNDROME Dr. Swati Kolpuru (Gadewar) DCH Fragile X syndrome is a common cause of mental retardation. The incidence has been estimated at approximately 1 in 1,500 males and 1 in 2,500 females. GENETICS: Mutation of a gene on the long arm of the X chromosome is responsible for FXS and involves instability of trinucleotide repeat sequence. Normally there are 6 to 50 repeats, but with the mutation, the repetition sequence begins to expand and may increase from generation to generation eventually making this region unstable. When there are more than 200 repetitions, the fragile X mental retardation-I gene at Xq27.3 becomes hypermethylated and is inactive. This affects the gene product, the FMR-I protein, which is responsible to cause the physical, behavioral and cognitive aspects of the fragile X syndrome. A premutation carrier state exists when there are 50 to 200 repetitions of the CGG trinucleotide. The gene remains unmethylated in the premutation state and normal production of the FMR-I protein occurs.

27. Fragile X Syndrome | Baby | March Of Dimes Fragile X syndrome is the most common inherited form of intellectual disability. Males tend to be more severely affected than females. Fragile X syndrome is caused by an http://www.marchofdimes.com/pnhec/4439_9266.asp

28. Fragile X Syndrome Dear Doctor Column, April 12, 2004. Fragile X Syndrome Has Wide Range of Symptoms. Question My 3year-old son has been diagnosed with fragile X syndrome. http://www.health.uab.edu/17713/

Fragile X syndrome Search Query Aortic valvuloplasty offers hope to high-risk patients Aortic valvuloplasty offers hope to high-risk patients AORTICVALVEMASTER-promo.jpg Dear Doctor Column, April 12, 2004 Fragile X Syndrome Has Wide Range of Symptoms Question: My 3-year-old son has been diagnosed with fragile X syndrome. Doctors in our town didn't know what was wrong with him and it finally took a specialist in another city to correctly diagnose him. At least now we know what's wrong. We would very much appreciate any information you could provide us about fragile x. Answer: Fragile X syndrome is a heredity genetic disorder. It is different from Down syndrome, another common genetic cause of mental retardation: Down syndrome is caused by an extra chromosome (chromosomes are the structures in cells that contain the genes), while fragile X syndrome is caused by an abnormality in a single gene. Although fragile X is the single most common inherited cause of mental impairment (ranging from learning disabilities to mental retardation), up to 90% of children with the disorder are either incorrectly diagnosed or remain undiagnosed. The syndrome affects about 1 in 4000 boys and 1 in 8000 girls and occurs in all racial and ethnic groups, according to the March of Dimes. While many children with fragile X syndrome do not look different from their peers, some have subtle physical signs. These include a long narrow face, large ears, a high arched palate, flat feet, and overly flexible joints (especially the fingers). Some of these features do not become apparent until after puberty, when boys tend to develop enlarged testicles. Speech and language problems can include involuntary repetition of words or phrases, inability to move mentally from one idea to another, poor language content, and dropping of letters or syllables when speaking.

29. Fragile X Syndrome: EMedicine Pediatrics: Genetics And Metabolic Disease Overview Fragile X syndrome, also termed MartinBell syndrome or marker X syndrome, is the most common cause of inherited mental retardation and is the second most common cause http://emedicine.medscape.com/article/943776-overview

30. Fragile X Syndrome. [Indian J Pediatr. 1998 Mar-Apr] - PubMed Result PubMed is a service of the U.S. National Library of Medicine that includes over 19 million citations from MEDLINE and other life science journals for biomedical articles back to http://www.ncbi.nlm.nih.gov/pubmed/10771963

31. Fragile X, NCBDDD, CDC Information on single gene disorders and disability. Provided by the U.S. Centers for Disease Control Prevention. http://www.cdc.gov/ncbddd/single_gene/fragilex.htm

Home About CDC Press Room Funding ... CDC en EspaƱol Search: Go Button: triggerParms["cpp_5"] = "CDC-Section:"+ cppUrlPatch ("BirthDefects"); // CPP -5 -Optional Single Gene Disorders and Disability (SGDD) Single Gene Disorders Home Fragile X Syndrome What is Fragile X syndrome? ADHD ). Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability with or without learning disabilities. Autism spectrum disorders ( ASDs ) also occur more frequently in children with FXS. What is fragile X syndrome? What causes fragile X syndrome? Click to view a video about what causes fragile x syndrome transcript of video ... Return to top of page Date: September 1, 2006 Content source: National Center on Birth Defects and Developmental Disabilities Single Gene Disorders Home Duchenne/Becker Muscular Dystrophy (DBMD) Fragile X Syndrome (FXS) What is FXS ... Thank you for visiting the CDC-NCBDDD Web site. Click here to contact the National Center on Birth Defects and Developmental Disabilities For specific medical advice related to these disorders, please contact your health care provider. For additional questions about the information on this site, please contact cdcinfo@cdc.gov

32. Fragile X Syndrome: MedlinePlus Fragile X syndrome is the most common form of inherited mental retardation . A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html

pttitle = ""; Skip navigation A service of the U.S. National Library of Medicine National Institutes of Health Home About MedlinePlus ... Contact Us Search MedlinePlus Health Topics ESPAƑOL Other Topics: A B C D ... All Topics Fragile X Syndrome URL of this page: http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html Also called: FRAXA Fragile X syndrome is the most common form of inherited mental retardation . A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include Intelligence problems, ranging from learning disabilities to severe mental retardation Social and emotional problems, such as aggression in boys or shyness in girls Speech and language problems, especially in boys Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help. NIH: National Institute of Child Health and Human Development Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

33. Fragile X Syndrome | Baby | March Of Dimes Fragile X syndrome is the most common inherited form of intellectual disability. Males tend to be more severely affected than females. Fragile X syndrome is caused by an http://www.marchofdimes.com/professionals/14332_9266.asp

34. Fragile X Syndrome: MedlinePlus Medical Encyclopedia Fragile X syndrome is a genetic condition involving changes in part of the X chromosome chromosome. It is the most common form of inherited mental retardation mental http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm

Skip navigation A service of the U.S. National Library of Medicine National Institutes of Health Home About MedlinePlus ... Contact Us Search MedlinePlus Health Topics ESPAƑOL Fragile X syndrome Fragile X syndrome is a genetic condition involving changes in part of the X chromosome . It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. Causes Fragile X syndrome is caused by a change in the FMR1 gene. A small section of the gene code (three letters only CGG) is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem. Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it. Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.

35. NIH Office Of Rare Diseases Research (ORDR) - Error A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on Fragile X syndrome http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6464

36. Fragile X Syndrome Penn State Children's Hospital provides world class care and services to patients. http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm

37. Fragile X Syndrome Article describes Fragile X syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasesf/a/fragilex05.htm

zWASL=1;zGRH=1 zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zDO=0 Home Health Rare Diseases Rare Diseases Search Rare Diseases Diseases A-Z Pediatric Diseases In the News ... Share w(x2+zWl+'?p=1" zT="18/1[N" rel="nofollow">Print') Discuss in our Forum Apply now to guide this site Cause of inherited mental retardation From Mary Kugler, R.N. , former About.com Guide Updated November 21, 2005 About.com Health's Disease and Condition content is reviewed by our Medical Review Board See More About: x chromosome disorders mental retardation autism zSB(3,3) Fragile X syndrome is caused by a genetic defect of a single gene on the X (female) chromosome. Fragile X syndrome affects approximately 1 in 4,000 males and 1 in 8,000 females. Women have two X chromosomes, and a normal X chromosome may mitigate the effects of a defective X chromosome. Fragile X syndrome affects people of all ethnic backgrounds. It is the most common cause of inherited mental retardation. Symptoms The effects of Fragile X on an individual's mental status are partially related to the environment in which the individuals grows up, what educational and therapeutic opportunities are available, and how early those interventions are begun. The cognitive and neuropsychological symptoms include: Mild to severe mental retardation (IQ 20-80) Poor eye contact, hand biting, or hand flapping behaviors are present in 16-25% of individuals. Some children with Fragile X syndrome may also be diagnosed with autism, and some children with autism may have undiagnosed Fragile X syndrome.

38. Fragile X Syndrome - MSN Health & Fitness - Autism Fragile X syndrome is the most common inherited form of mental retardation. It affects about 1 in 4000 males and 1 in 8000 females and occurs in all http://health.msn.com/health-topics/autism/articlepage.aspx?cp-documentid=100169

39. Fragile X Syndrome Research Symptoms, Treatment, Heritability Fragile X Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Fragile X Syndrome, including details on symptoms http://fragilexsyndrome.researchtoday.net/

40. Fragile X Syndrome -- Genes And Disease -- NCBI Bookshelf Fragile X syndrome is the most common inherited form of mental retardation currently known. Fragile X syndrome is a defect in the X chromosome and its effects are seen more http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=fragilexsyndrome

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