61. Fragile X For years, mystery shrouded fragile x syndrome, a form of mental impairment. 2.The modified virus is injected into the mouse model of fragile x syndrome. http://web.sfn.org/content/Publications/BrainBriefings/fragile.x.html

Login Directory Merchandise Contact Us ... Abstracts/Annual Meeting Publications Full size image available below Fragile X For years, mystery shrouded fragile X syndrome, a form of mental impairment. Since the biological roots of the disease were unknown, traditional therapies have centered on treating the behavioral characteristics of the disease. For example, attention problems often are treated with central nervous system stimulants that are used for attention-deficit hyperactivity disorder. But the 1991 discovery of the genetic error that underlies fragile X has electrified scientists. A series of new studies is leading to treatments that can target the biomedical malfunctions, specifically. You added 10 teaspoons of Tabasco sauce instead of one. One cookbook typo certainly changed the outcome of your chili. Errors in the recipe for a human - or genes - carry even greater consequences. Inherited disorders, including a form of mental impairment called fragile X syndrome, result from alterations in the code in genes. Normally, molecules in the genes efficiently encode and guide the production of proteins. These proteins, in turn, guide the development and function of the body and brain. In patients with fragile X syndrome, a gene, which should hold a string of three coding molecules that repeat six to 50 times, is over-expanded. The misprint can include 200 to more than 1,000 copies of this one particular "triplet" sequence. The excess muddles the instructions needed for the creation of a specific protein. The result? The level of fragile X protein in a person with the syndrome is low or nonexistent - the lower the level, the greater the mental impairment. Side effects range from mild learning and attention disabilities to severe mental retardation.

62. Fragile X fragile x syndrome. This diagram displays fragile x syndrome. This occurs inabout 1 in 1500 males. Affected female carriers are typically normal. http://medgen.genetics.utah.edu/photographs/pages/fragile_x.htm

Fragile X Syndrome view 110KB version view 8KB version A boy with fragile X syndrome. Note the prominent and elongated ears and long face. Children from different ethnic groups have similar characteristics. This picture shows a Caucasian boy. view 1378 KB version view 5KB version This picture is of an Asian boy with fragile X syndrome. view 1864 KB version view 13 KB version This picture is of an Hispanic boy with fragile X syndrome. This diagram displays fragile X syndrome. This occurs in about 1 in 1500 males. Affected female carriers are typically normal. Most of the affected males have mental retardation, and their testes are larger than normal. Examinations Photographs Movies Links ... noJava Home

63. Fragile X Syndrome: What Is It? Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic,inherited disorders fragile x syndrome, sexlinked disorder. http://www.yourgenesyourhealth.org/fragx/whatisit.htm

Concept 15 : DNA and proteins are key molecules of the cell nucleus. Learn the basic chemistry of DNA and proteins. Concept 27 : Mutations are changes in genetic information. Find out how mutations affect gene expression. Concept 33 : Genes can be turned on and off. Learn how gene expression is controlled.

64. Hospital Practice: Fragile X Syndrome Trinucleotide Repetition and fragile x syndrome STEPHEN T. WARREN Emory University. Clinically,fragile x syndrome is hard to recognize, especially in newborns. http://www.hosppract.com/genetics/9704gen.htm

Molecular Genetics in Clinical Practice Trinucleotide Repetition and Fragile X Syndrome STEPHEN T. WARREN Emory University Insufficiently appreciated as a cause of learning disability and other behavioral problems, fragile X syndrome accounts for almost 10% of inherited mental retardation. Identification of the specific mutation as a dramatic trinucleotide expansion inaugurates an era of accurate diagnosis, and goes far toward explaining the syndrome's inheritance patterns, in which risk varies as the disease descends through a family. Dr. Warren is an investigator at the Howard Hughes Medical Institute and William P. Timmie Professor of Human Genetics, Emory University School of Medicine, Atlanta. Even more oddly, the risk of mental impairment varies with position in a pedigree. Men unaffected by having a fragile X chromosome are called transmitting males because they pass the defective chromosome to all of their daughters, who have almost no risk of mental impairment. In marked contrast, the sons of carrier women have a 76% penetrance, and the daughters a 32% penetrance. In the children of impaired women, the figures are 100% for boys and 56% for girls. In brief, disease expression depends on inheritance from the mother, and as the disease trait descends through a kindred, the proportion of affected boys becomes greater in each generation (Figure 2). No standard type of mutation could have accounted for any such changes. Indeed, the peculiarities resisted all explanation until the mutation was understood. By 1991, fragile X syndrome had been mapped to a small interval marked by induced translocations at the fragile X site in somatic cell hybrids. Intensive investigation of the region disclosed two forms of abnormality in fragile X chromosomes: a span of DNA hypermethylation and also a length variation, soon traced to a great number of repetitions of the trinucleotide CGG. The area affected was a gene now designated

65. Fragile X Syndrome: Keep Kids Healthy Conditions fragile x syndrome, a common cause of mental retardation in males, andits symptoms and treatments. fragile x syndrome. by Barb Durso, MD. http://www.keepkidshealthy.com/welcome/conditions/fragile_x.html

Bookstore Site Map Contact Us Help ... What's New? Search this site: Advanced Search Free Newsletters Main Menu Useful Tools Index of Topics Pediatric Problems New! Parenting Tips Symptom Guide Nutrition Immunizations ... Web Links Online Resources What's New Reviews New! Growth Charts Online Forums Vaccine Schedule Baby Names Guide ... Pediatric News Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Mental Retardation Related Links Mental Retardation Autism ADHD Speech Delays ... Diseases and Conditions Fragile X Syndrome by Barb Durso, MD What is Fragile X Syndrome? Fragile X Syndrome is the most common inherited cause of mental retardation . Although many of us have heard of Trisomy 21 or Down Syndrome as a cause of mental retardation, few of us are familiar with Fragile X Syndrome. The exact prevalence of Fragile X Syndrome is not certain, but is believed to occur in about 1 out of every 2000 boys and 1 out of 4000 girls. Some studies indicate that up to 6% of mentally retarded males may be found to have Fragile X Syndrome. Because Fragile X Syndrome is inherited, it is important to understand a little bit about the genetics behind it. All women carry two X chromosomes, and all men carry one X and one Y chromosome. The X and Y chromosomes are the so-called sex chromosomes. Located on the X chromosome is a gene called

66. Fragile X Syndrome fragile x syndrome. Definition fragile x syndrome is a genetic conditioninvolving changes in the long arm of the X chromosome. http://www.healthscout.com/ency/article/001668.htm

Advertisement Search HealthScout Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Allergies Eczema Animation ... Impotence Resources Healthscout News 3D Interactive Human Atlas Health Videos Health Encyclopedia ... Drug Library Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Fragile X syndrome Definition: Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome . It is characterized by mental retardation. Alternative Names: Martin-Bell syndrome; Marker X syndrome Causes, incidence, and risk factors: Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females. The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome tends to repeat bits of the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is more likely to affect them more severely. Review Date: 8/6/2003 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

67. Fragile X Syndrome fragile x syndrome. fragile x syndrome. Your genes, your health. Your FragileX Syndrome / diagnosis. Screening for fragile x syndrome. This http://omni.ac.uk/browse/mesh/C0016667L0016667.html

low graphics Fragile X Syndrome Fragile X Syndrome Fragile X Syndrome / diagnosis Fragile X Syndrome / genetics broader: Mental Retardation other: Down Syndrome Mental Retardation Prader-Willi Syndrome Turner Syndrome ... Williams Syndrome Fragile X Syndrome Your genes, your health Your Genes, Your Health is an ongoing project providing a multimedia guide to human genetic disorders. Provided by the DNA Learning Center, Cold Spring Harbor Laboratory and funded by a grant from the Josiah Macy, Jr Foundation, this project features Fragile X syndrome, Marfan syndrome, cystic fibrosis, hemophilia, Duchenne/Becker muscular syndrome, and phenylketonuria (PKU). Discussed are the causes, symptoms, treatment, incidence, testing and screening procedures for these syndromes. Throughout the guide there are relevant links to resources available from the DNA Learning Center. This multimedia guide requires Flash Player and QuickTime Player (TM) in order to view the video clips and hear the audio clips. A glossary of terms is provided. Patient Education Genetics, Medical

68. Fragile X Syndrome fragile x syndrome is the most common cause of inherited mental retardation.It results from a defect on the X (female) chromosome. fragile x syndrome. http://rarediseases.about.com/b/a/084148.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Fragile X Syndrome Rare/Orphan Diseases Blog Main May 07, 2004 Fragile X Syndrome Fragile X syndrome is the most common cause of inherited mental retardation. It results from a defect on the X (female) chromosome. Suspense writer Mary Higgins Clark is active in promoting awareness and research for Fragile X. Her grandson has the disorder. Email a Friend Display Latest Headlines Read Archives Most Popular ALD and Lorenzo's Oil Progeria Syndromes Mad Cow Disease and Humans The Elephant Man's Bones Reveal Mystery ... Prune Belly (Eagle-Barrett) Syndrome What's Hot Michael J. Fox, Caffeine, and Pesticides

69. Development And Neurobiology: Genetics Of Childhood Disorders: Fragile X Syndrom fragile x syndrome is a common form of mental retardation with an estimatedincidence of 1 per 2,000 to 4,000 in the general population. http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00febgen.htm

J Am Acad Child Adolesc Psychiatry,39:2, 264-266 February 2000 Stephan Eliez, M.D., and Allan L. Reiss, M.D. Fragile X syndrome is a common form of mental retardation with an estimated incidence of 1 per 2,000 to 4,000 in the general population. The physical manifestations associated with the syndrome include macroorchidism, large ears, a prominent jaw, moderate to severe mental retardation, and autistic-like behavior. However, physical features are not always reliable indicators of the presence of the condition, particularly in prepubertal children and females. For years, investigators had noted that the phenotype of fragile X syndrome cosegregated with an unusual disruption of the X chromosome. Karyotyping of cells grown in folate-depleted cell culture media revealed that many patients had a ³fragile² site on one of their X chromosomes that appeared as a constriction on the distal long arm. This genetic syndrome is of particular interest to clinicians and scientists who want to understand brain development and function in children. Individuals with fragile X syndrome manifest neurodevelopmental abnormalities that include varying levels of cognitive dysfunction, particularly in the domains of executive, visual-spatial, and visual motor abilities, and frequently display behavioral symptoms of autism, attention-deficit/hyperactivity disorder, and social anxiety. Morphological variations of brain structure have been observed in this population and include abnormalities in the cerebellar vermis, caudate, hippocampus, and lateral ventricles.

70. Fragile X Syndrome fragile x syndrome. Definition fragile x syndrome is caused by a mutatedgene on the X chromosome. Affected individuals http://www.chclibrary.org/micromed/00048720.html

Main Search Index Definition Description Causes ... Resources Fragile X syndrome Definition Fragile X syndrome is caused by a mutated gene on the X chromosome. Affected individuals have developmental delays, variable levels of mental retardation , and behavioral and emotional problems. They may also have characteristic physical traits. Males are affected more severely than females. Description Fragile X syndrome is the most common form of inherited mental retardation. Estimates of the incidence of this syndrome vary, but it is thought to affect about one in 2,000 girls and one in 1,250 boys. The syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome. The role of the gene is unclear, but it is probably important in early development. The mutation involves a short sequence of DNA in the gene. This sequence is designated CGG. Normally, there are fewer than 50 adjacent copies of the CGG sequence. If the CGG sequence repeats more than 200 times, the FMR-1 gene is disabled. Fragile X syndrome is caused by a full mutation in the FMR-1 gene on the X chromosome. Because boys have just one copy of the X chromosome, they are more likely to develop symptoms than girls are. Fragile X boys appear normal at birth but development is delayed and they may have behavioral problems as they get older. Common behavioral problems include hyperactivity and attention problems known as attention deficit disorder. Approximately 90% of fragile X boys are mentally retarded, although the severity of the retardation varies. Characteristic physical traits appear later in childhood. These traits include enlarged testes, prominent ears, and a long, narrow face.

71. Www.mediconsult.com/pregnancy/shareware/fragilex/ fragile x everybody - New Zealand Consumer Health Information fragile x syndrome is an inherited genetic disorder and the most common form ofinherited mental retardation. Typical characteristics of fragile x syndrome. http://www.mediconsult.com/pregnancy/shareware/fragilex/

72. AllRefer Health - Fragile X Syndrome (Marker X Syndrome, Martin-Bell Syndrome) fragile x syndrome (Marker X Syndrome, MartinBell Syndrome) information centercovers causes, prevention, symptoms, diagnosis, treatment, incidence, risk http://health.allrefer.com/health/fragile-x-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Fragile X Syndrome Fragile X Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Marker X Syndrome, Martin-Bell Syndrome Definition Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome . It is characterized by mental retardation. Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females. The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome tends to repeat bits of the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is more likely to affect them more severely. Previous Top Next Jump to another section Definition Fragile X Syndrome Prevention Fragile X Syndrome Treatment Fragile X Syndrome Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you

73. Screening For Fragile X Syndrome: A Literature Review And Modelling Study Screening for fragile x syndrome a literature review and modelling study. FragileX syndrome (FXS) is an inherited disorder that causes learning difficulty. http://www.ncchta.org/execsumm/summ716.htm

HTA Home Page Details page for this publication Publications listing Publications search Health Technology Assessment 2003; Vol 7: number 16 Executive Summary View/Download full monograph in Adobe Acrobat format (574 kbytes) View/Download 4-page summary in Adobe Acrobat format (suitable for printing) Screening for fragile X syndrome: a literature review and modelling study FJ Song P Barton V Sleightholme GL Yao A Fry-Smith Department of Public Health and Epidemiology, University of Birmingham, UK Health Service Management Centre, Birmingham, UK Clinical Genetics Unit, Birmingham Women’s Hospital, UK *Corresponding author Background Fragile X syndrome (FXS) is an inherited disorder that causes learning difficulty. The disorder affects an estimated one in 4000 males and one in 8000 females. Affected males are generally unable to live independently, while affected females have learning difficulty but may live independently. There is no cure for FXS. Management of affected individuals is through specific educational and psychosocial interventions and treatment of any clinical symptoms. There are about 10,000 FXS patients in England and Wales. Since the annual cost to the NHS for managing a moderately affected adult was approximately £20,000 (1995 data), the total annual cost of managing FXS patients can be estimated to be £200 million in England and Wales.

74. Fragile X Syndrome: Diagnostic And Carrier Testing fragile x syndrome Diagnostic and Carrier Testing. INTRODUCTION.fragile x syndrome is the most common cause of inherited mental http://www.acmg.net/resources/policies/pol-014.asp

Fragile X Syndrome: Diagnostic and Carrier Testing INTRODUCTION Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.

75. Stanford Psychiatry Neuroimaging Laboratory Fragile X What is fragile x syndrome? fragile x syndrome is a common hereditarycause of mental retardation and learning disability. Both http://spnl.stanford.edu/disorders/fragilex.htm

76. Fragile X Syndrome - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List fragile x syndrome.Advanced Search. However, the preferred name is fragile x syndrome. http://www.medterms.com/script/main/art.asp?articlekey=3517

77. Marja-Leena Väisänen. Fragile X Syndrome In Northern Finland. ISBN 951-42-5377 fragile x syndrome in Northern Finland. Molecular, diagnostic andpopulation genetic aspects. MarjaLeena Väisänen. Department of http://herkules.oulu.fi/isbn9514253779/

Library units Collections Electronic collections Library services ... index.html Fragile X syndrome in Northern Finland Molecular, diagnostic and population genetic aspects Marja-Leena Väisänen Department of Clinical Genetics, University of Oulu Academic Dissertation to be presented with the assent of the Faculty of Medicine, University of Oulu, for public discussion in Auditorium 1 of the University Hospital of Oulu, on October 8th, 1999, at 12 noon. University of Oulu Manuscript received 7 September 1999 Manuscript accepted 13 September 1999 Communicated by Professor Marja-Liisa Savontaus Docent Kalle O.J. Simola UNIVERSITY OF OULU, OULU FINLAND 1999 ISBN 951-42-5377-9 URN:ISBN:9514253779 Abstract Fragile X syndrome, the most common inherited form of mental retardation syndrome, is caused by an expansion of the CGG trinucleotide repeat in the 5' UTR of the gene, with concurrent hypermethylation of the region, which represses expression. The syndrome is associated with the folate-sensitive chromosomal fragile site at Xq27.3 (FRAXA), where the gene responsible for the syndrome was first localized by linkage analysis using RFLP markers. In this study the linkage relationships of the RFLP markers at Xq27-28 and the characteristics of the CGG repeat expansion were investigated in northern Finnish fragile X families and molecular diagnostic methods were applied in order to improve diagnosis of the syndrome. Furthermore, the origin of fragile X mutations in the northern part of Finland was studied by haplotype analysis.

78. Cell Biology Lab- Fragile X Syndrome The disease fragile x syndrome is the most common form of inherited mental retardationin humans. fragile x syndrome and fragile XE mental retardation. http://anatomy.med.unsw.edu.au/cbl/research/neurons/fx1.htm

Cell Biology Lab Email m.hill@unsw.edu.au Research Background- Fragile X Back to CBL Homepage Research Background Introduction PubMed Page 2 Links ... Review Articles Back to Actin Page Apoptosis Cytoskeleton Page Fragile X Glaucoma mRNA Localization mRNA Loc List Neurons ... Research Background Introduction The disease Fragile X syndrome is the most common form of inherited mental retardation in humans. The Gene and mutation causing this disease has recently (1993) been identified. The disease results from a CGG expansion in the FMR1 gene located on the X chromosome (Xq27.3, see Figure 1 ) . The disease is inherited by non-Mendelian transmission, contains a genetically unstable CGG region in the 5' non-translated region ( see Figure 2 ). The severity of the disease is correlated with the length of the CGG tract (

79. Cell Biology Lab- Fragile X Syndrome Introduction. The disease fragile x syndrome is the most common formof inherited mental retardation in humans. The Gene and mutation http://anatomy.med.unsw.edu.au/cbl/research/mrna/fx1.htm

Cell Biology Lab Email m.hill@unsw.edu.au Research Background- Fragile X Back to CBL Homepage Research Background Introduction PubMed Page 2 Links ... Review Articles Back to Actin Page Apoptosis Cytoskeleton Page Fragile X Glaucoma mRNA Localization mRNA Loc List Neurons ... Research Background Introduction The disease Fragile X syndrome is the most common form of inherited mental retardation in humans. The Gene and mutation causing this disease has recently (1993) been identified. The disease results from a CGG expansion in the FMR1 gene located on the X chromosome (Xq27.3, see Figure 1 ) . The disease is inherited by non-Mendelian transmission, contains a genetically unstable CGG region in the 5' non-translated region ( see Figure 2 ). The severity of the disease is correlated with the length of the CGG tract. This sequence expansion effect blocks the normal function of this gene, and also occurs in other diseases.

80. Fragile X Syndrome fragile x syndrome. What is it? fragile x syndrome is a form of mentalretardation caused by a mutated gene on the X chromosome. http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm

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