21. Fragile X Syndrome fragile x syndrome. DESCRIPTION The fragile X mutation that produces the fragile x syndrome is the most common known heritable cause of mental retardation. As a result, it is the most common form of http://www.5mcc.com/Assets/SUMMARY/TP0352.html

Fragile X syndrome DESCRIPTION: The fragile X mutation that produces the fragile X syndrome is the most common known heritable cause of mental retardation. As a result, it is the most common form of familial mental retardation. This condition received its name from the cytogenetic "fragile site" which is seen on the long arm of the X chromosome (Xq27.3). It is associated with abnormal increase in CGG repeats in the untranslated region of the FMR-1 gene in both carriers and affected individuals. Affected individuals also exhibit hypermethylation at the fragile site. System(s) affected: Nervous, Reproductive, Musculoskeletal Genetics: The pattern of inheritance is X-linked, however, this condition is seen in both sexes. Males usually more severely affected than females. The specific factors controlling the expression of genes at the fragile X site are not fully understood 80% of males with the fragile X chromosome will be affected with moderate to severe mental retardation, with 20% unaffected and defined as transmitting males Only one third of the female carriers will have mental retardation, and their degree of handicap usually is less severe. Females may demonstrate emotional problems.

22. CCD: Youth And Family: Fragile X Syndrome fragile x syndrome Fact Sheets for Health Professionals. Contact numbers are Victorian. to search The fragile x syndrome. The clinical http://hnb.dhs.vic.gov.au/commcare/yafs_yf.nsf/0/1d5baac3ccee72744a256744000645a

23. Fragile X - Fragile X Syndrome - Mental Retardation - Genetic Defects - Autism - Fragile X is one of the most common singlegene diseases and the leading form of autism of known cause. Conquer Fragile X Foundation. http://www.conquerfragilex.org/

Find Out More About Matthew Recent News: Descriptions of projects currently funded by CFXF updated Fragile X is one of the most common single-gene diseases and the leading form of autism of known cause. "No disease should be left unconquered. Scientific opportunity is too great to have research be anything less than a national priority. We applaud the efforts of Conquer Fragile X Foundation to find the cure." Mary Woolley, President Research! America Please Visit Us Often For New Information Donations can be made thru United Way: CFXF #32236 Conquer Fragile X Foundation Harris Hollin, President Karen Fay, Executive Director 189 Bradley Place, Suite 1 Palm Beach, FL 33480 Telephone: 561-833-3457 Fax: 877-275-1192 Contact CFXF Conquer Fragile X Foundation is a national non-profit 501(c) (3) tax exempt organization. Federal I.D. Number 65-0910605

24. Index The National Fragile X Foundation informes and educates about the fragile x syndrome. http://nfxf.org/

25. What Is Fragile X When the number of CGG repeats is between 50 and 200 the individual is a premutation carrier of fragile x syndrome. Is There a Cure for fragile x syndrome? http://www.conquerfragilex.org/what_is_fragile_x.html

What Is Fragile X? In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In individuals with Fragile X Syndrome, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein that it normally makes. Some individuals are fragile X carriers; they have a small defect in the FMR1 gene (called a premutation) but do not show symptoms of Fragile X . Fragile X is inherited. Carrier men (transmitting males) pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene. The Fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. A DNA blood test identifies both carriers and affected individuals. While the exact prevalence of Fragile X is unknown, recent studies indicate the statistics below: 1 in 2000 boys and 1 in 4000 girls are estimated to be affected.

26. CMGS-Fragile X Syndrome/17.12.98 Describing fragile x syndrome. http://www.ich.ucl.ac.uk/cmgs/frax98.htm

MRCPath 17.12.98 Fragile X syndrome Fragile X syndrome is associated with the presence of a fragile site on the X chromosome (Xq27.3), termed FraX A (Lubs et al , 1969). It is characterised by mild to severe mental retardation Frequency: ~1/1500 males ~1/2500 females This makes Fragile X the second commonest specific cause of mental retardation after Down syndrome. Clinical features Long face- coarsening of features Large everted ears Macroorchidism in post pubertal males Increased head circumference Hypotonia Behavioural disturbances- hyperactivity, autism Generalised disorder of connective tissues However, there is great variability in the extent of these physical features, with some retarded males showing few of the physical components. This variability makes clinical diagnosis very difficult. Should all mentally retarded individuals be considered as candidates? Inheritance Unique inheritance characteristics for an X-linked disease. Usually X-linked diseases e.g

27. Fragile X Syndrome - Description, Links And Books Most of the 1 in 1200 boys affected by fragile X suffer from mental retardation, while onehalf to two-thirds of the 1 in 2500 afflicted girls have a normal IQ http://www.isn.net/~jypsy/fragilex.htm

It’s the single most common inherited cause of mental impairment. Symptoms include: Mental impairment, ranging from learning disabilities to mental retardation. Attention deficit and hyperactivity. Anxiety and unstable moods. Autistic-like behaviour. Long face, large ears, flat feet and hyperextensible fingers. For the most part, boys are more severely affected than girls. Most of the 1 in 1200 boys affected by fragile X suffer from mental retardation, while one-half to two-thirds of the 1 in 2500 afflicted girls have a normal IQ and some learning disabilities. Both sexes, however, experience emotional and behaviour problems. Fragile X is one of the most common inherited disorders in the world—partly because it affects all races and ethnic groups equally. And the sad truth is that 80—90% of people with fragile X aren’t even correctly diagnosed. A NEW APPROACH IN PRENATAL DIAGNOSIS OF FRAGILE X SYNDROME Fragile X (FMR-1): DNA ANALYSIS Fragile X Research Foundation of Canada/Fondation Canadienne de Rescherche sur le Syndrome de Fragilite' du Chromosome X. Fragile X, Stories, Pictures, Links ... Fragile X Syndrome - by Stephen M. Edelson, Ph.D. Fragile X Syndrome - Recognition in Young Children FRAXA Research Foundation Genewatch: Screening for Fragile-X Syndrome Health Supervision for Children With Fragile X Syndrome ... Special Child's Link links checked March 15th, 2004

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

a series of studies examining the impact of fragile X syndrome (FXS) for a recent publication describing our work, click here. This web site is designed to increase public awareness and understanding of young children with fragile X syndrome (FXS). Visitors to our site can expect to: Learn about the effects of FXS on young children Read summaries of FXS research studies and findings Learn about the experiences of families of children with FXS Better understand the behavior of children with FXS Read about intervention strategies for children with FXS Learn more about services available for children with disabilities Find out how to advocate for services The Carolina Fragile X Project is located at the FPG Child Development Institute , one of the nation's oldest multidisciplinary centers for the study of young children and their families. Research and education activities of the Institute focus on child development and health, especially factors that may put children at risk for developmental problems. This project is funded by grants from the Office of Special Education programs, United States Department of Education, the FRAXA Foundation, National Institutes of Health, Ronald McDonald House Charities, the National Fragile X Foundation, and the FPG Child Development Center Small Grant Awards. (Please see research section for more details.) The contents of this site do not necessarily represent the positions or policies of the funding agencies.

29. Queensland Fragile X Association About QFXA, news, events, links and contacts. Also information of fragile x syndrome. http://cwpp.slq.qld.gov.au/qldfragilex/

WA Support Group meeting, 1 May 2004 The Fragile X Qld (FXQ) email group was established for families and professionals. email qfxa email webmaster

30. Gbr05 fragile x syndrome. This report is in Adobe PDF (Portable Document Format) and can be downloaded here fragile x syndrome. To download http://www.thearc.org/depts/gbr05.html

Fragile X Syndrome This report is in Adobe PDF (Portable Document Format) and can be downloaded here: Fragile X Syndrome To download this document, you need Adobe's Acrobat Reader, free software that lets you download, read and print documents in their original, layed-out format regardless of the computer platform you use or software you have loaded. You can read about and download this software here: Adobe Acrobat Reader for Windows Adobe Acrobat Reader for Macs Return to The Arc's Human Genome page. Return to The Arc's Welcome Page

31. Genewatch: Screening For Fragile-X Syndrome [Aug 1997; 42-4] Genewatch Screening for FragileX Syndrome. Reference Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile x syndrome. http://www.jr2.ox.ac.uk/bandolier/band42/b42-4.html

@import "../styles/advanced.css"; Skip navigation Genewatch: Screening for Fragile-X Syndrome HTA report A recently published report commissioned by the HTA programme sets out the current state of knowledge about screening for the fragile-X syndrome. The work reported involved a comprehensive systematic review of over 500 papers on the subject. Its stated purpose was to provide the information needed to decide whether to use DNA testing to screen for the disorder. In this it is, not surprisingly, only partly successful. Most of its recommendations are for further studies because current information isn't adequate to allow rational decisions to be made about future screening strategies. Fragile-X Fragile-X syndrome is the second most common cause of severe mental retardation after Down's syndrome. The latest population prevalence figures are about 1 in 4,000 for males and 1 in 8,000 for females. About 6% of institutionalised individuals with learning difficulties have the syndrome. It was first described in 1969 and the responsible gene, FMR-1, was identified in 1991. In addition to varying degrees of mental retardation the clinical phenotype often includes macro-orchidism in males, abnormal facies with prominent forehead, large jaw and large ears, joint laxity and behavioural problems. The syndrome gets its name from the fact that chromosomal analysis usually reveals a narrowing near the end of the long arm of the X chromosome (Xq27).

32. FMR1 And The Fragile X Syndrome:  HuGE Factsheet fact sheet FMR1 and the fragile x syndrome Dana C. Crawford zbn9@cdc.gov HuGE Review FMR1 and the fragile x syndrome human genome epidemiology review. http://www.cdc.gov/genomics/hugenet/factsheets/FS_FragileX.htm

Your browser does not support script fact sheet FMR1 and the Fragile X Syndrome Dana C. Crawford zbn9@cdc.gov HuGE Review Published July, 2001 Gene The fragile X mental retardation-1 ( ) gene, located at Xq27.3, codes for the mRNA-binding fragile X mental retardation protein (FMRP). FMRP is thought to shuttle select mRNAs between the cytosol and nucleus and is highly expressed in the brain, testes, ovaries, esophageal epithelium, thymus, eye, and spleen. Prevalence of Gene Variants For premutations (61-200 repeats), the estimates for Caucasian females range from 1 in 246 to 1 in 468 in the general population. To date, the smallest premutation to hyperexpand to the full mutation in a single generation is 59 repeats. If the threshold for premutations were lowered to 55-200 repeats, the prevalence among Caucasian females can be as high as 1 in 116, depending on the population studied. For Caucasian males, the prevalence of the premutation (61-200 repeats) is probably between 1 in 1,000 to 1 in 2,000 in the general population. No estimates exist for other racial/ethnic groups. Disease Burden The fragile X syndrome is the most common form of inherited mental retardation and accounts for approximately 40% of cases with X-linked mental retardation. Other characteristics of the fragile X syndrome include a wide range of cognitive, behavioral, and physical features such as variable IQ (profound to mild mental retardation), autistic-like features, hyperactivity, increased testicular volume, macrocephaly, and large ears. Females are less severely affected, presumably because of X-inactivation. In the United States, a child with the fragile X syndrome is eligible for early intervention and special education services. A screening study in a U.S. public special education population suggests that approximately 1 in 400 males receiving special education services are affected by the fragile X syndrome.

33. Delayed Diagnosis Of Fragile X Syndrome --- United States, 1990--1999 Delayed Diagnosis of fragile x syndrome United States, 19901999. FMR1 and the fragile x syndrome human genome epidemiology review. http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5133a3.htm

Delayed Diagnosis of Fragile X Syndrome - United States, 19901999 Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, affecting approximately 50,000 persons in the United States ( ). FXS occurs when a mutation on the X chromosome is passed from mother to child. Preliminary data suggest that children affected by FXS experience a delay in diagnosis, a pattern common to other single-gene disorders ( ). The molecular test used to definitively diagnose FXS became available in 1991. The first indication of FXS within a family is usually the diagnosis of FXS in a child. Although no proven treatments exist for FXS, prompt diagnosis enables children to receive early intervention services and families to receive genetic counseling ( ). To assess the timing of a diagnosis of FXS in an affected child and genetic counseling for the family, the Frank Porter Graham Child Development Institute (University of North Carolina at Chapel Hill) conducted a survey during AugustOctober 2001 of 140 parents whose first child affected by FXS was born and had the condition diagnosed during 19901999. This report summarizes the results of that survey, which indicate that approximately half of the families did not learn the diagnosis for more than a year after first concerns about their child's development or behavior, and half reported having subsequent pregnancies before FXS was diagnosed in their first child. These findings emphasize the importance of increased opportunities for early diagnosis so children and families can receive all possible benefits, including genetic counseling and intervention services.

34. Medical References: Fragile X Syndrome fragile x syndrome is the most common inherited form of mental retardation. Quick References and Fact Sheets. fragile x syndrome http://www.marchofdimes.com/professionals/681_9266.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick References and Fact Sheets Fragile X Syndrome Fragile X syndrome is the most common inherited form of mental retardation. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups. Fragile X syndrome is a genetic disorder that runs in families. It is different from Down syndrome, another common genetic cause of mental retardation. Down syndrome is generally caused by an extra chromosome (chromosomes are the structures in cells that contain the genes), while fragile X syndrome is caused by an abnormality in a single gene. What causes fragile X syndrome? In 1991, a March of Dimes-supported researcher discovered that fragile X syndrome is caused by a mutation (change) in a gene (called FMR-1) located on the X chromosome. Each person has 23 pairs of chromosomes, or 46 individual chromosomes. One pair, referred to as the sex chromosomes (called X and Y), determines whether a person is male or female. Normally, females have two X chromosomes, and males have one X chromosome and one Y chromosome. A female who inherits one X chromosome with the abnormal FMR-1 gene has, in effect, a spare X with the normal gene. A female, therefore, tends to be less often affected by fragile X syndrome than a male and, if affected, less severely than a male. Males have one X chromosome containing only the abnormal gene, so they are generally more severely affected.

35. Medical References: Fragile X Syndrome fragile x syndrome fragile x syndrome is the most common inherited form of mental retardation. fragile x syndrome is a genetic disorder that runs in families. http://www.marchofdimes.com/printableArticles/681_9266.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick References and Fact Sheets Fragile X Syndrome Fragile X syndrome is the most common inherited form of mental retardation. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups. Fragile X syndrome is a genetic disorder that runs in families. It is different from Down syndrome, another common genetic cause of mental retardation. Down syndrome is generally caused by an extra chromosome (chromosomes are the structures in cells that contain the genes), while fragile X syndrome is caused by an abnormality in a single gene. What causes fragile X syndrome? In 1991, a March of Dimes-supported researcher discovered that fragile X syndrome is caused by a mutation (change) in a gene (called FMR-1) located on the X chromosome. Each person has 23 pairs of chromosomes, or 46 individual chromosomes. One pair, referred to as the sex chromosomes (called X and Y), determines whether a person is male or female. Normally, females have two X chromosomes, and males have one X chromosome and one Y chromosome. A female who inherits one X chromosome with the abnormal FMR-1 gene has, in effect, a spare X with the normal gene. A female, therefore, tends to be less often affected by fragile X syndrome than a male and, if affected, less severely than a male. Males have one X chromosome containing only the abnormal gene, so they are generally more severely affected.

36. Open Directory - Search Results Fragile X Association of Southern California fragile x syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. http://www.fragilex.com/

37. Facts About Fragile X Syndrome Information on fragile x syndrome including diagnosis, treatment, research, language and parent resources. Search Our Site Facts About fragile x syndrome. http://www.childdevelopmentinfo.com/disorders/facts_about_fragile_x_syndrome.htm

Search Our Site: Find Help For: Select A Topic ADD/ADHD Anxiety Aspergers Autism Bedwetting Behavior Problems Bipolar Disorder Depression Dyslexia Fears Homework OCD Reading School Problems Shyness Sibling Rivalry Sleep Problems Tourettes [Site Map] [Index] [Research Center] [Resource Directory] ... - Store] Childhood Disorders ADHD Asperger's Anxiety Autism ... Tourette's Research ADHD Autism Dyslexia Miscellaneous Famous People Teacher Tips News ADHD Dyslexia Please take a moment to recommend our site to others! Facts About Fragile X Syndrome Fragile X syndrome is the most common genetically-inherited form of mental retardation currently known. In addition to intellectual disability, some individuals with Fragile X display common physical traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear normal in infancy but develop typical physical characteristics during their lifetime. Mental impairment may range from mild learning disability and hyperactivity to severe mental retardation and autism. This genetic syndrome is caused by a defect on the X chromosome. Because of scientific advances, improvements in genetic testing, and increased awareness, the number of children diagnosed with Fragile X has increased significantly over the last decade.

38. Public Health Genetics Unit: Fragile X Syndrome fragile x syndrome. See Explanatory Notes. Implications of current knowledge of the genetics of fragile x syndrome. Genetic testing for fragile X mutations. http://www.phgu.org.uk/info_database/diseases/fragile_x/fragilex.html

Text-only sitemap Home About Newsletter ... Search Fragile X syndrome See Explanatory Notes Contents Genetics Implications of current knowledge of the genetics of Fragile X syndrome Genetic testing for Fragile X mutations Genetic screening ... On-line information Fragile X syndrome affects about 1 in 4000 males and 1 in 8000 females. The major features are learning disability of varying severity, behavioural problems such as hyperactivity and autistic tendencies, and physical characteristics including long face, protruding ears, lax joints and (in males) enlarged testes. There is no cure but there is some evidence that treatment of the associated behavioural and educational problems can be beneficial. Genetics Fragile X syndrome is caused by mutation of the FMR-1 gene on the X chromosome . The FMR-1 gene contains a sequence that consists of a variable number of repeats of the trinucleotide CGG. This sequence occurs in a part of the gene that is transcribed but is not translated into protein. The normal number of CGG repeats varies between 5 and about 50 (average around 30). Individuals with fragile X syndrome typically have more than 200 of these repeats, a condition known as a full mutation (FM). The full mutation prevents transcription of the FMR-1 gene, so that none of its protein product is made. Males have only one X chromosome, so if they carry a FM they are always affected. Females have two X chromosomes and the result of a FM in one chromosome can be very variable: about 50% of such females show some symptoms of the syndrome and 20% are severely affected.

39. Fragile X Syndrome fragile x syndrome research index site with links for disability users, 1000 s of search engines and with live java games, chat s, kids internet, irc, jobs http://www.ability.org.uk/fragile.html

Our Aims Services Stats ... Z Fragile X Syndrome FRAXA Research Foundation - a single gene disorder and the inherited cause of mental retardation. a national nonprofit, parent-run foundation, funds medical research aimed at treatment. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

40. Fragile X Syndrome - DrGreene.com fragile x syndrome. Related Introduction fragile x syndrome is the most common cause of mental retardation in boys. What is it? Fragile http://www.drgreene.com/21_1096.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Fragile X Syndrome Related concepts: Martin-Bell syndrome, Marker X syndrome, Cluttering Introduction: Fragile X syndrome is the most common cause of mental retardation in boys. What is it?

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