41. Index In the meantime here is information about fragile x syndrome and The FragileX Society. fragile x syndrome. What causes Fragile X ? Fragile X Families. http://www.fragilex.org.uk/

Welcome to The Fragile X Society At the moment our Home Page is still under construction. In the meantime here is information about Fragile X Syndrome and The Fragile X Society. Fragile X Syndrome What causes Fragile X ? Fragile X Families The Fragile X Society For more information please contact Email info@fragilex.org.uk Write to: The Fragile X Society, Rood End House, 6 Stortford Road, Great Dunmow, Essex, CM6 1H7 Telephone: The Fragile X Society is a UK registered charity number 1003981.

42. Fragile X Syndrome fragile x syndrome. chromosomal abnormality affects males females(1/1000 births); mild familial mental retardation. findings normal http://chorus.rad.mcw.edu/doc/02033.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search fragile X syndrome chromosomal abnormality mild familial mental retardation findings: normal to increased head size macroorchidism protruding ears prominent jaw Michael A. Woo-Ming, MPH - 2 February 1995 Last updated 14 March 2001 Related documents: Cockayne syndrome progeria (Hutchinson-Gilford) syndrome blueberry muffin sign central pontine myelinolysis ... Medical College of Wisconsin

43. Fragile X Syndrome fragile x syndrome (aka MartinBell Syndrome, FRAX) is an X-linked syndrome of mentalreatrdation associated in a proportion of cases with dysmorphic features http://www.cmgs.org/BPG/Guidelines/2nd_ed/fragile_x_syndrome.htm

Workshops 1992, 1996 Guidelines prepared by David Barton . First draft of this edition, 1 May 1998 IMPORTANT NOTICE: THESE GUIDELINES ARE AT A DRAFT STAGE. THEY ARE POSTED HERE FOR COMMENTS, CORRECTIONS AND AMENDMENTS, AND SHOULD NOT BE USED TO GUIDE LABORATORY PRACTICE UNTIL FORMALLY PUBLISHED. 1. NOMENCLATURE AND GENE ID Locus FRAXA Gene FMR-1 OMIM # GeneCard Fragile X 2. DESCRIPTION OF THE DISEASE: Fragile X syndrome (a.k.a. Martin-Bell Syndrome, FRAX) is an X-linked syndrome of mental reatrdation associated in a proportion of cases with dysmorphic features including large everted ears, coarse facies, elongated face and macro-orchidism. Behavioural disturbances including hyperactivity or autistic-like behaviour may be present. Females can also be affected. Approximately one third of female carriers of full mutations will have mild to moderate mental retardation. Most recent publications on the prevalance of FRAX estimate that the disease affects approximately 1 in 5,000 males. 3. THE GENE

44. Fragile X Syndrome fragile x syndrome is caused in the vast majority of cases by expansions at a (CGG)nrepeat sequence in the promoter region of the FMR1 gene 1-3 . Expansion http://www.cmgs.org/BPG/Guidelines/1st_ed/fx.htm

Workshops 1992, 1996 Guidelines prepared by David Barton Fragile X syndrome is caused in the vast majority of cases by expansions at a (CGG)n repeat sequence in the promoter region of the FMR-1 gene . Expansion of the array above about 200 repeats, accompanied by methylation of the adjacent CpG island, extinguishes expression of the gene. Deletions and point mutations in the FMR-1 coding sequence have also been reported to cause the syndrome . CGG repeat alleles in the 55-200 range are unstable at meiosis and are referred to as premutations. The basis of the most commonly used diagnostic test is sizing of the repeat array by Southern blotting. This is often combined with methylation analysis by restriction enzyme digestion with a methylation-sensitive enzyme. The term "Fragile X syndrome" is commonly used to refer to the syndrome caused by (CGG)n expansions and other lesions in the FMR-1 gene - the FRAXA locus. However, it is now clear that a small number of families which would cytogenetically have been classed as Fragile X have expansions at the nearby FRAXE locus, which also contains an unstable (CGG)n repeat . This repeat can be analysed by PCR as described below. Southern blot analysis Detecting full expansions The most commonly used enzymes are EcoRI and HindIII, which give normal fragments of approximately 5.1kb. Several equivalent probes are used, particularly Ox1.913 and StB12.314.

45. InteliHealth: Fragile X Syndrome referenced in an AZ format. fragile x syndrome. Health A to Z, Reviewedby the Faculty of Harvard Medical School fragile x syndrome http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9603.html

chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_comm_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_comm-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement 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 results from an error in a small piece of the DNA (genetic blueprint) for the FMR-1 gene. This gene is found on the X chromosome, one of the two chromosomes, X and Y, that determine gender.

46. InteliHealth: InteliHealth Home Health News, Reviewed by the Faculty of Harvard Medical School FragileX Syndrome What Is It? fragile x syndrome is an inherited http://www.intelihealth.com/IH/ihtIH?d=dmtContent&c=210337&p=~br,IHW|~st,333|~r,

47. Fragile X Syndrome. fragile x syndrome. (MatinBell Syndrome). Disease Aetiology. In fragileX syndrome, a region of the chromosome has a series of repeats. When http://www.diseasedir.org.uk/genetic/genex03.htm

Fragile X Syndrome (Matin-Bell Syndrome) Disease type: Gene repeat Chromosomes: X Chromosome Aetiology In fragile X syndrome, a region of the chromosome has a series of repeats. When polymerase begins to replicate the chromosome, polymerase can slip on these repeats, and accidentally enlarges these repeats. In the case of fragile X syndrome, it is thought that when the number of repeats is greater than 200 the gene becomes methylated (a methyl group is added onto the DNA backbone). This methylation causes the gene to become inactive (the promoter becomes inactive, the gene is no longer transcribed). Polymerase is thought to slip when producing the Okazaki fragments during DNA replication. Polymerase can only work in one direction. DNA is said to be asymmetrical, one strand runs in one direction, the other strand runs in the other direction. Polymerase can replicate along one direction uninterrupted, but in the opposite direction polymerase can only move a certain distance before it bumps into itself (see diagram). When polymerase replicates over a large number of repeats, when working in the wrong direction polymerase slips and accidentally copies more of the repeats than there actually are. Later the new repeats become integrated into the chromosome, causing the gene to become inactive once the repeats pass a certain threshold (greater than 200).

48. EMedicine - Fragile X Syndrome : Article By Jennifer Jewell, MD fragile x syndrome fragile x syndrome, also termed Martin-Bell syndrome or markerX syndrome, is the most common cause of inherited mental retardation and http://www.emedicine.com/PED/topic800.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Fragile X Syndrome Last Updated: March 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: marker X syndrome, Martin-Bell syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Jennifer Jewell, MD , Clinical Assistant Professor, Department of Pediatrics, University of Vermont School of Medicine, Pediatric Hospitalist, Barbara Bush Children's Hospital at Maine Medical Center Jennifer Jewell, MD, is a member of the following medical societies: American Academy of Pediatrics American Medical Association Massachusetts Medical Society , and Sigma Xi Editor(s): Michael Fasullo, PhD , Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota;

49. FRAGILE X SYNDROME : Contact A Family - For Families With Disabled Children: Inf printer friendly, fragile x syndrome, in affected individuals. 1030per cent of people with fragile x syndrome develop epilepsy. http://www.cafamily.org.uk/Direct/f33.html

printer friendly FRAGILE X SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Fragile X is the most common identifiable form of inherited learning disability . It has a prevalence of about 1 in 4,000 males and 1 in 8,000 females. The cause is an abnormality just above the tip of the X chromosome's long arm, which may be passed from one generation to the next. Intellectual disability varies from mild to severe. Girls and women who have a fragile X chromosome are often of normal intelligence. However up to a third have learning problems which are usually mild or moderate but can occasionally be severe. Other problems experienced by affected individuals include delayed and distorted speech and language development. There can be difficulties with the social use of language, with continuing speech anomalies, repetitive behaviour, attention deficits and overactivity, and autistic-like features, such as poor eye contact, hand flapping, social anxiety, abnormal shyness and an insistence on routine. Physical features ascribed to fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However these are rarely obvious in affected individuals. 10-30 per cent of people with fragile X syndrome develop

50. UAB Health System | Fragile X Syndrome Mansfield. fragile x syndrome. Dear Doctor Column, April 12, 2004.fragile x syndrome Has Wide Range of Symptoms. Question My http://www.health.uab.edu/show.asp?durki=66712&site=734&return=18687

51. UAB Health System | Fragile X Syndrome Stanton. fragile x syndrome. Dear Doctor Column, April 12, 2004. FragileX Syndrome Has Wide Range of Symptoms. Question My http://www.health.uab.edu/show.asp?durki=66712

52. Fragile X Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders fragile x syndrome fragile x syndrome. Information Fragile X Fact s Page Describing fragile x syndrome. ? Fragile http://www.healthcyclopedia.com/genetic-disorders/fragile-x-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > fragile x syndrome Fragile X Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Mental Health/Disorders/Child and Adolescent/Mental Retardation/Causes Neurological Disorders/Chromosomal Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "fragile X syndrome" Health News: Search millions of published articles for news on Fragile X Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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. Conquer Fragile X, Inc.

53. Fragile X Syndrome An introduction of fragile x syndrome, followed by links to articles,clinical trials and support groups. fragile x syndrome. Fragile http://genomelink.org/fragile/

Fragile X Syndrome Fragile X syndrome, one of the most common causes of mental retardation and neuropsychiatric disease in humans, occurs as a result of the production of fragile sites by trinucleotide repeat expansion of at least one gene located on the X chromosome, which results in problems with learning and behaviour. Learning disabilities are often accompanied by delays in speech and communication skills. There are very good tests to determine whether a person has fragile X, which consists of DNA studies of a blood sample. Acne Allergy Antibiotics Antioxidants ... Wedding Useful Links (Articles, Databases, Support Groups) Neurobiology and Genetics of Fragile X Syndrome - by NIH Guide. Fragile X Syndrome Research - from the Stanford University School of Medicine. Fragile X Syndrome - from the ERIC Clearinghouse on Disabilities and Gifted Education. Research Background- Fragile X - by the University of New South Wales, Faculty of Medicine, School of Anatomy. Fragile X mental retardation - autosomal homolog 2. Fragile X Syndrome - from Public Health Genetics Unit, Cambridge UK.

54. Fragile X Syndrome fragile x syndromefragile x syndrome. Affected Males Mental retardation; Long, thin faces prominent jaw; Large, protuberant ears; Macroorchidism; Austistic http://ibis-birthdefects.org/start/frafact.htm

Tips for printing Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Titles and Fragile X Syndrome FRAXA FRAXD FRAXE FRAXF Fragil X Syndromet [Swedish] Fra X syndrom [German] Marker X syndrome Martin Bell syndrome Sindrome Martin Bell Sindrome X Fragil [Spanish] Sindrome X Fragile [Italian] X Fragile site Folic Acid type X-linked Mental Retardation and macroorchidism X-linked Mental Retardation associated with marXq28 Special Resources Fragile X Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [German] [Italian] [Portuguese] [Spanish] [Swedish] [*][P] Fragile X Syndrome GeneClinics by J Tarleton and RA Saul. " ... characterized by moderate mental retardation in affected males and mild mental retardation in affected females ... all mothers of a child with an FMR1 gene full mutation (expansions >230 trinucletide repeats) are known to be carries of an FMR1 gene expandsion. They and their family members are at increased risk to have children with fragile X syndrome and should be offered DNA-based testing and recurrence risk counseling based on the results. This counseling is extremely complex and should be provided by a knowledgeable genetic professional. Prenatal testing is possible though analysis ... should only be undertaken after carrier status has been ... (1998)."

55. Pediatric Advisor 2003.2: Fragile X Syndrome Index. fragile x syndrome. What is fragile x syndrome? fragile x syndrome is aninherited disorder. It is the full mutation that causes fragile x syndrome. http://www.med.umich.edu/1libr/pa/pa_fragilex_hhg.htm

Pediatric Health Topics All Health Topics Mott Children's Hospital Pediatric Services ... Find a UMHS Doctor Search Pediatric Topics Search All Topics This information is approved and/or reviewed by U-M Health System providers but it is not a tool for self-diagnosis or a substitute for medical treatment. You should speak to your physician or make an appointment to be seen if you have questions or concerns about this information or your medical condition. Index Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is an inherited disorder. It can cause hyperactivity, learning problems, and emotional problems. It can also cause mental retardation and autism, although some children with fragile X have normal IQs. This disorder is the most common known cause of inherited mental retardation and affects both males and females. What is the cause? Fragile X syndrome is a genetic disorder caused by a mutation (a change in the genetic information) of a specific gene. The parents or other family members did not do anything to cause it. The gene mutation has usually been carried unknowingly for many generations. Both males and female carriers can have a small fragile X mutation (called a premutation) and still be completely normal. The premutation can expand to a larger full mutation when it is passed on to the next generation through a female. It is the full mutation that causes fragile X syndrome. Your child may be the first one in your family with behavior or development problems, or there may be other relatives who are affected by the fragile X mutation. Your doctor or a genetic counselor will explain how this gene mutation is passed on in your family and who should be tested for it.

56. UMHS Your Child Fragile X Syndrome Take our online survey. Type in a topic and hit the go button. fragile x syndrome.What is fragile x syndrome? What causes fragile x syndrome? It is inherited. http://www.med.umich.edu/1libr/yourchild/fragilex.htm

Your Child Home Fragile X Genetic Syndromes Causes ... Our editorial policy Your Child Topics What do you think? Take our online survey Type in a topic and hit the "go" button Fragile X Syndrome What is Fragile X syndrome? Fragile X is the most common inherited form of mental retardation. It affects about 1 in 1200 males of all racial and ethnic groups. It can cause a range of mental impairment— varying from mild to severe , and can also cause many other typical features and symptoms. Here is some basic information about Fragile X. To learn more about genetics and to better understand how genes cause syndromes, see Your Child: Genetic Syndromes What causes Fragile X syndrome? It is inherited. It is caused by mutation of a gene ( ) on the X-chromosome. Genetic testing for Fragile X is possible. Mothers may be a carrier of the mutation and pass it on to their children.

57. What Is Fragile X Syndrome? fragile x syndrome is second only to Down Syndrome in causing congenital mentalretardation and is the leading cause of inherited mental retardation. http://www.ikm.jmu.edu/Buttsjl/ISAT493/Fragile X Syndrome/fragilexintro.html

Main X-linked page Symptoms Incidence Severity ... Prognosis Fragile X Syndrome is second only to Down Syndrome in causing congenital mental retardation and is the leading cause of inherited mental retardation. The disease is diagnosed by Polymerase Chain Reaction (PCR) on the X-chromosome(s) of affected individuals for a fragile area and the FMR1 gene. This fragile area generally results from a lack of folate, which causes triplet repeats in the fragile area of the X chromosome. The more triplet repeats there are on the X chromosome, the more severely affected the individual will be. An individual with less than 50 repeats generally will not be noticeably affected, while an individual with more than 200 repeats will be profoundly affected. In addition, anticipation is seen in the incidence of fragile X syndrome. Anticipation causes the disease to be more severe with each generation that is strikes. Click above to listen to a pronunciation of the disease. When prompted, click 'open from current location'! The figure shown above is the x chromosome. The circled area shows the elongated, decondensed region at the tip of the long arm. This is the "fragile area." This picture was borrowed from

58. The Neurobiology Of Mental Retardation: Fragile X Syndrome The Neurobiology of Mental Retardation fragile x syndrome. DeborahSilvis. In my One such disease is fragile x syndrome. Fragile X http://serendip.brynmawr.edu/bb/neuro/neuro99/web2/Silvis.html

Biology 202 1999 Second Web Reports On Serendip The Neurobiology of Mental Retardation: Fragile X Syndrome Deborah Silvis In my previous paper, I wrote on the topic of the nature-nurture debate and the ways it related to the brain-equals-behavior dilemma. In this paper, I will continue this investigation into the link between genes and neurobiology, but I will focus in on a particular aspect of the relationship: neurological disease caused by genetic aberration. There are many well studied and well documented (thought not necessarily well understood) disorders associated with the X chromosome, and a large number of these have neurobiological roots and behavioral manifestations. One such disease is fragile X syndrome. Fragile X syndrome is the most common inherited form of learning disabilities and mental retardation known . The disease shows an x-linked inheritance pattern and is characterized by a host of symptoms ranging from impaired learning abilities to severe retardation and autistic behaviors . An understanding of the disease is vital on several levels. Fragile X syndrome (FXS) not only bears scientific significance for the fields of molecular genetics, transmission genetics, neurophysiology, and abnormal psychology. It also provides one with a vantage point from which to view the particular set of behaviors known as mental retardation as well as those afflicted by retardation who are too often stigmatized and marginalized in our society.

59. Inclusive Technology - Fragile X Syndrome fragile x syndrome. What is Fragile X? fragile x syndrome is the mostcommon inherited cause of learning disability (mental handicap). http://www.inclusive.co.uk/support/fragilex.shtml

home catalogue search downloads ... support organisations Fragile X Syndrome The following information is provided by The Fragile X Society. What is Fragile X? Fragile X Syndrome is the most common inherited cause of learning disability (mental handicap). It occurs more in boys than in girls and is associated with varying degrees of learning difficulty. Boys who are affected almost always have some learning difficulty ranging from mild learning difficulties to severe handicap. Girls are often of normal intelligence but up to a third have learning problems which may be mild or moderated but are occasionally severe. The behaviour features include short attention span, distractibility, impulsiveness and overactivity. Shyness and social withdrawal are often seen in girls who may have difficulties in making friends. Many show autistic-like features - a dislike of eye contact, difficulty in relating to other people, anxiety in social situations often leading to tantrums, insistence on familiar routines and hand flapping or hand biting. Speech and language is usually delayed with continuing speech difficulties and some children and adults develop epilepsy.

60. Genetic Counseling For Fragile X Syndrome: Recommendations Of The National Socie Brief Summary. GUIDELINE TITLE. Genetic counseling for fragile x syndrome recommendationsof the National Society of Genetic Counselors. BIBLIOGRAPHIC SOURCE(S). http://www.guideline.gov/summary/summary.aspx?doc_id=2546

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