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Fragile X Syndrome: more books (85)

Screening for Fragile X Syndrome by Maria Bredow, Ian Harvey, 1995-05
Facts about fragile X syndrome (SuDoc HE 20.3352:F 84) by U.S. Dept of Health and Human Services, 1996
A critical review of the literature of the relationship between fragile X syndrome and autism in males by Michelle M Roberts, 2002
An assessment of screening strategies for fragile X syndrome in the UK (Health technology assessment 2001)
A medication guide for fragile X syndrome by Michael R Tranfaglia, 1997
Fragile X syndrome: An overview, educational implications, and a family perspective by Melissa A Carlson, 1999
Fragile X Syndrome: A Review of Literature by Suzanne Saunders, 1996-02
Children With Fragile X Syndrome: A Parents' Guide (The Special-Needs Collection) by Abigail Barr, 1993-09
Children With Fragile X Syndrome: A Parents' Guide (The Special-Needs Collection) by Abigail Barr, 1993-09
Fragile X Syndrome A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 1980
Prenatal Diagnosis: Fetus, Embryo, Birth Defect, Down Syndrome, Chromosome, Fragile X Syndrome, Nuchal Translucency
Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndro
The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
Psychopharmacologic interventions for fragile X: Prader-Willi, Angelman's syndrome.(Behavioral Pediatrics): An article from: Pediatric News by Ben Van Houten, 2004-02-01

lists with details

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

Extractions: 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.
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

Extractions: 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
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
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

Extractions: 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
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

Extractions: Recommend Us tell a friend about us or email this page to a friend Related Links Mental Retardation Autism ADHD Speech Delays ... Diseases and Conditions by Barb Durso, MD 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
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

Extractions: 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.
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

Extractions: low graphics 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 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
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

Extractions: 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); 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 Rare/Orphan Diseases Blog Main Fragile X Syndrome
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

Extractions: 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.
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

Extractions: 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.
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/
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

Extractions: 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 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.
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

Extractions: A Fry-Smith Department of Public Health and Epidemiology, University of Birmingham, UK Health Service Management Centre, Birmingham, UK Clinical Genetics Unit, Birmingham Womens Hospital, UK *Corresponding author 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.
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

Extractions: 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.
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
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
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/

Extractions: Library services ... index.html Fragile X syndrome in Northern Finland 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 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.
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

Extractions: 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 (
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

Extractions: 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.
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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