1. Fragile X Syndrome - Wikipedia, The Free Encyclopedia Fragile X syndrome (FXS), or MartinBell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and http://en.wikipedia.org/wiki/Fragile_X_syndrome

Fragile X syndrome From Wikipedia, the free encyclopedia Jump to: navigation search Fragile X syndrome Classification and external resources Location of gene ICD Q ICD OMIM ... MeSH Fragile X syndrome (FXS), or Martin-Bell syndrome , is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation. The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome , and results in a failure to express the protein coded by the gene, which is required for normal neural development. There are four generally accepted states of the chromosome region involved in Fragile X syndrome which relate to the length of the repeated CGG sequence; Normal (29-31 CGG repeats) (not affected by the syndrome), Premutation (55-200 CGG repeats)(not affected by the syndrome), Full Mutation (more than 200 CGG repeats)(affected), and Intermediate or Gray Zone Alleles (40 - 60 repeats). Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles).

2. Fragile X Syndrome (FXS) Causes, Signs, Symptoms, And Treatments On MedicineNet. Read about Fragile X syndrome (FXS or MartinBell syndrome) causes, signs, symptoms, and treatments. Learn the facts about the most common inherited form of mental retardation. http://www.medicinenet.com/fragile_x_syndrome/article.htm

MedicineNet.com About Us Site Map November 1, 2010 Home Slideshow Pictures Image ... Pet Health Slideshows Featured Slideshow Breast Cancer A Visual Guide to Breast Cancer View Slideshow Image Collection ... Additional Skin Conditions Featured Image Picture of Skin Cancer Excessive exposure to sunlight is the main cause of skin cancer. Sunlight contains ultraviolet (UV) rays that can... View Image Gallery Pet Health ... Cat Health Featured Slideshow Get the Facts View Slideshow home mental health center ... fragile x syndrome index fragile x syndrome article Font Size A A A Fragile X Syndrome Index ... Glossary Fragile X Syndrome What is Fragile X syndrome? What causes Fragile X syndrome? What keeps the gene from producing FMRP in Fragile X syndrome? ... Where can I go for more information about Fragile X syndrome? The National Institute of Child Health and Human Development (NICHD) National organizations Additional resources References Two Newlyweds Fight Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) One caregiver's story Reviewed by For the seven-plus years of our marriage, I have been Henry's medical advocate, as his mind was failing, and his primary caregiver, since he gradually lost the ability to walk or do activities of daily living on his own. The journey to a diagnosis began when Doctor #1 suggested Henry might have Parkinson's because of his stiffness and falling; she did several tests and then just never returned our calls because she clearly didn't know what to say. Doctor #2 gave Henry two

3. Fragile X Syndrome fragile X syndrome. Fragile X syndrome is the most common cause of inherited developmental delay. It is caused by a recessive gene mutation on the long arm of the X sex chromosome. http://www.drhull.com/EncyMaster/F/fragile_X_syndrome.html

Help for sleepless parents Guaranteed Unlimited personal help Encyclopedia Index F fragile X syndrome Search fragile X syndrome Fragile X syndrome is the most common cause of inherited developmental delay. It is caused by a recessive gene mutation on the long arm of the X sex chromosome. Some degree of intellectual impairment is present in affected patients, ranging from mild to severe, but usually moderate. Most children with fragile X syndrome suffer from attention problems as well, and may have a variety of other problems including speech disorders, hand mannerisms and autistic behaviors, and emotional problems. Prevalence in males: 1 in 1,000 to 2,000. Many are learning disabled, others are retarded. About one in 260 women is a carrier. Of these, about 70% of girls carrying the mutation are apparently unaffected. The other 30% may show mild symptoms or may be mentally retarded. This syndrome should be at least considered in any case of unexplained developmental delay, especially in males. Of course, genetic counselling for the family, both immediate and extended, is crucial.

4. Fragile X Syndrome Fragile X syndrome is the most common form of inherited intellectual and developmental disabilities (IDDs). Fragile X happens when there is a change, or mutation, in a single http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm

5. Fragile X Syndrome - Pregnancy Symptoms & Diseases / Human DNA Genetic Disorders Types, clinical signs, special properties of the Fragile X gene and genetic testing services available. http://www.geneticsofpregnancy.com/Encyclopedia/Fragile_X_syndrome.aspx?pid=15?p

6. Fragile-X Syndrome Symptoms, Diagnosis, Treatments And Causes - WrongDiagnosis.c FragileX Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. http://www.wrongdiagnosis.com/f/fragile_x_syndrome/intro.htm

7. Fragile X Syndrome - X-linked Mental Retardation And Macroorchidism Topics FRAXA FRAXD FRAXE FRAXF Marker X Martin Bell X FragileFolic Acid type X-linked Mental Retardation and Macroorchidism X-linked Mental http://ibis-birthdefects.org/start/frafact.htm

Report Broken Links Exchange Banners Contact Us Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism Search See I.B.I.S in English Spanish Russian Ukranian Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism Topics: Related Topics : Fragile X Bibliography Disabilities Birth Defects Fetal Alcohol Syndrome Service Related: Support Groups Professional Associations Key Information Sources Languages: The behavior features that call attention include: hand flapping, poor eye contact, tantrums and avoidance of being touched. The diagnosis of Fragile-X Syndrome requires special chromosome and DNA studies. Some key features... Males are more severely affected than females The head may tend to be large The face may become long and narrow The ears may become prominent The joints may be somewhat lax The arch of the feet may tend to be flat The testicles may become quite large (macroorchidism) Females with this gene have a strong chance to have affected children Males may have autistic-like behavior Our team recommends...

8. Your Genes, Your Health A multimedia guide to genetic, inherited disorders, and Fragile X syndrome. http://www.ygyh.org/

DNA Learning Center Home MORE DNALC SITES: DNA Interactive Eugenics Archive DNA from the Beginning Inside Cancer ... NEW! Your Genes, Your Health Blog! Olive Oil and Nutrigenomics The effect of foods on gene expression is a fairly new area of science termed nutrigenomics. Many people are highly interested in how they may protect or prevent disease or conditions by applying diets appropriate to ones genetic make-up. Although early in its stages nutrigenomics has identified some very interesting findings. [...] GO TO BLOG Explore Inside Cancer : A Multimedia Guide to Cancer Biology . The site features interviews with researchers and stunning animations on the biology of cancer. The information within this web site is for educational purposes only, and should not be used as medical advice. A physician should be consulted for any diagnosis and treatment options. Visit the companion site! www.dnaftb.org

9. What Is Fragile X Syndrome? The National Fragile X Foundation unites the fragile X community to enrich lives through educational and emotional support, promote public and professional awareness, and advance http://www.fragilex.org/html/what.htm

10. Diagnosis And Managment Of Fragile X Syndrome - July 1, 2005 - American Family P Diagnosis and Management of Fragile X Syndrome. DANIEL J. WATTENDORF, MAJ, MC, USAF, and MAXIMILIAN MUENKE, M.D., National Human Genome Research Institute, National Institutes of http://www.aafp.org/afp/2005/0701/p111.html

Advertisement AAFP Home Page Journals afp ... July 1, 2005 Table of Contents Diagnosis and Management of Fragile X Syndrome DANIEL J. WATTENDORF, MAJ, MC, USAF, and MAXIMILIAN MUENKE, M.D., National Human Genome Research Institute National Institutes of Health Bethesda Maryland Am Fam Physician.  2005 Jul 1;72(01):111-113.   This article exemplifies the AAFP 2005 Annual Clinical Focus on the legal, social, clinical, and ethical issues of medical genomics. Related Editorial To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The first review in this series discusses fragile X syndrome. Fragile X syndrome is caused by an expansion mutation in the Fragile X mental retardation 1 gene located on the X chromosome It characteristically leads to some degree of mental retardation. The phenotype is subtle, with minor dysmorphic features and developmental delay during childhood. Characteristic features during adolescence are an elongated face, prominent jaw, large ears, macro-orchidism, and a range of behavioral anomalies and cognitive deficits

11. Basically FX - Living With Fragile X Syndrome Personal story of a family living with Fragile X Syndrome. http://basicallyfx.com

var path="http://www.basicallyfx.com/wp-content/plugins/flexible-lightbox/images/"; Basically FX Living with Fragile X Syndrome Home Cast of Characters Contact Us Web Ring A bit of history In April of 2006 our family received the life changing news that our son had a genetic mutation called Fragile X Syndrome. Like most people in this country, we had never heard of this condition even though it had been affecting Umma and her family for many years. The goal of this website is to share our story and connect with other parents of children with Fragile X and, just maybe, spread the word about this disorder so we are no longer greeted with "fragile what?" anytime we discuss our son's challenges and special needs. .: Popular Posts :. 25 Things about life with Fragile X A guaranteed motivator. I smell like maple syrup. .: Search :. Fragile X Webring Prev. Random Next Home ... Join .: Blogroll :. 1 Special Family Adventures in Holland All About Fragile X Building on the Good ... X-Dad .: Fragile X Links :. Fraxa.org National Fragile X Foundation .: Categories :. Select Category Adventures in medication Autism News Fragile X Conference Fragile X Memories Fragile X News Life with Fragile X Syndrome Non Sequitur Potty Talk School .: Archives :. Select Month November 2010 October 2010 September 2010 August 2010 July 2010 June 2010 May 2010 April 2010 March 2010 February 2010 January 2010 December 2009 November 2009 October 2009 September 2009 August 2009 July 2009 June 2009 May 2009 April 2009 March 2009 February 2009 January 2009 December 2008

12. The National Fragile X Foundation The National Fragile X Foundation's website contains over 3000 pages of content on the genetic mutation called Fragile X including fragile X syndrome (FXS), fragile http://www.fragilex.org/html/home.shtml

13. Fragile X Syndrome Important It is possible that the main title of the report Fragile X Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and http://children.webmd.com/fragile-x-syndrome

14. Autistic Behavior Research into the relationship between autistic characteristics and fragile X syndrome (FXS) conducted by Don Bailey and Gary Mesibov of the University of North Carolina at Chapel Hill. Features project goals and summary of findings. http://www.fpg.unc.edu/~fx/Pages/autistic.htm

Research: Autistic Behavior Principal Investigators: Don Bailey, Gary Mesibov Many young children with fragile X syndrome are referred for an autism evaluation before they are ever diagnosed with fragile X due to similar early behavioral symptoms in the two disorders. Based on findings from early work in the longitudinal study, we concluded that research on the early expression of autistic features in young boys with fragile X may help distinguish between this disorder and autism. Collaboration on a study began with Dr. Gary Mesibov, an expert on autism and director of Division TEACCH, a clinical center at UNC specializing in the diagnosis and treatment of persons with autism and communication disorders. Research Goals Assess the extent to which autistic features were evident in a young population of boys with fragile X syndrome; Examine the relationship between ratings of autistic behavior and developmental trajectories of young boys with fragile X syndrome; and Compare the developmental status, functional abilities, and temperament of young boys with fragile X who did not have autism with boys with autism but no fragile X. Methods Participants Boys with FXS participating in the CFXP longitudinal study in 1996-1997 were rated for signs of autistic behavior using the Childhood Autism Rating Scale (CARS) during a developmental assessment using the Battelle Developmental Inventory. A total of 57 ratings were completed on a sample of boys from 24 to 133 months of age.

15. Fragile X Syndrome - Scripps Health - San Diego Definition. 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 http://mobile.scripps.org/articles/328-fragile-x-syndrome

Fragile X syndrome Definition 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, incidence, and risk factors 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. Symptoms Hyperactive behavior Large body size Large forehead or ears with a prominent jaw Large testicles (macro-orchidism) after the beginning of puberty Mental retardation Tendency to avoid eye contact Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature

16. Pediatric Neurology Medical Screening, Treatment & Care - Rush - Chicago Treating conditions from learning and behavior disorders to those requiring critical care. Includes details of specialist clinics for muscular dystrophy, epilepsy and Fragile X syndrome. Part of the Rush University Medical Center, Chicago, Illinois, USA. http://www.rush.edu/rumc/page-R12245.html

Neurological Surgery Pediatric Neurology Pediatrics Neurological Disorders (Pediatrics) Neurological Care Orthopedic Surgery Psychiatry Pediatric Neurology Screening and Treatment Program Description The Section of Pediatric Neurology at Rush University Medical Center in Chicago Illinois , treats a wide range of diseases from learning and behavior disorders to those requiring critical care. We provide medical care for children with meningitis, encephalitis, epilepsy, brain tumors, central nervous system infections, mental retardation, cerebral palsy, muscular dystrophy, neuropathies, spina bifida, hydrocephalus, central nervous system malformations, neurocutaneous disorders and attention deficit disorder. Services Provided Muscular Dystrophy Clinic : The largest program of its kind in the Chicago area, this clinic is operated by the Section of Pediatric Neurology in conjunction with the Neurology and Orthopedics departments. The clinic is associated with the Muscular Dystrophy Association. Fragile X Syndrome Clinic : This clinic is dedicated to the care of children with Fragile X syndrome, an X-chromosome-linked condition that is the most common inherited cause of mental retardation. The clinic is the only one of its kind in Chicago and one of few in the Midwest. Rush Epilepsy Center : One of the largest programs of its kind in Chicago, the center offers many treatment options for children with epilepsy and other seizure-related disorders.

17. FRAXA Research Foundation - Finding A Cure For Fragile X FRAXA's mission is to find effective treatments and a cure for Fragile X Syndrome, the most common inherited cause of autism and intellectual disabilities. FRAXA is parentfounded http://fraxa.org/

Fragile X - What is it? Fragile X is the most common inherited cause of mental impairment and the most common known cause of autism. Learn more about Fragile X What is FRAXA? FRAXA is a nonprofit organization run by parents. Our mission: to find treatments and a cure for Fragile X by funding the most promising research. FRAXA has funded $18 million in research. How close are we to a treatment? Join FRAXA Mailing List First Name Last Name Email Translations: select a flag Doris Buffett's Challenge: $500,000! Doris Buffett has challenged FRAXA to raise $500,000 ... if we can she will match it. It's all or nothing by 1/31/11!

18. Fragile X Syndrome - Symptoms, Diagnosis, Treatment Of Fragile X Syndrome - NY T Free articles and multimedia from The NY Times, including information on symptoms, diagnosis, treatments, tests, and surgical procedures, as well as current news and interviews http://health.nytimes.com/health/guides/disease/fragile-x-syndrome/overview.html

19. FRAXA Research Foundation - Finding A Cure For Fragile X Non-profit organization run by parents. Fighting to find a cure for Fragile X Syndrome and helping Fragile X Family s. http://www.fraxa.org/

Fragile X - What is it? Fragile X is the most common inherited cause of mental impairment and the most common known cause of autism. Learn more about Fragile X What is FRAXA? FRAXA is a nonprofit organization run by parents. Our mission: to find treatments and a cure for Fragile X by funding the most promising research. FRAXA has funded $18 million in research. How close are we to a treatment? Join FRAXA Mailing List First Name Last Name Email Translations: select a flag Doris Buffett's Challenge: $500,000! Doris Buffett has challenged FRAXA to raise $500,000 ... if we can she will match it. It's all or nothing by 1/31/11!

20. Fragile X Syndrome - Genetics Home Reference Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. http://www.ghr.nlm.nih.gov/condition=fragilexsyndrome

About Site Map Contact Us Search A service of the Home Conditions Genes Chromosomes ... Resources Fragile X syndrome Related Gene(s) References Quick links to this topic MedlinePlus Health information Genetic and Rare Diseases Information Center Information about genetic conditions and rare diseases Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs Genetic Tools Teaching cases ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Genetic Conditions Fragile X syndrome On this page: Description Genetic changes Inheritance Treatment ... Glossary definitions Reviewed May 2007 What is fragile X syndrome? Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Males and females with fragile X syndrome may have anxiety and hyperactive behavior such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behavior that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.

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