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Topic: Fragile X syndrome


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 Fragile X Syndrome- Health Encyclopedia and Reference
Fragile X syndrome is an X chromosome defect that causes mental retardation and a wide range of associated signs and symptoms.
Most of the time these fragile sites are not associated with medical problems, but a pronounced gap in one such region, at the end of the long arm of the X chromosome is associated with fragile X syndrome.
Fragile X syndrome is estimated to affect one in 2,000 males and to be responsible for 10 percent of mentally retarded males.
www.healthcentral.com /encyclopedia/408/599.html   (715 words)

  
 Summary of Fragile X Syndrome
In females, these are two X's; in males they are and X and Y. Genes are given names to identify them and the gene responsible for fragile X syndrome is called the FMR1 (fragile X mental retardation 1) gene.
Fragile X syndrome is one of a group of conditions called trinucleotide repeat disorders.
In 1991 the FMR1 gene that causes Fragile X was identified.
www.fragilex.org /html/summary.htm   (1248 words)

  
 FMR1-Related Disorders   (Site not responding. Last check: 2007-11-06)
The diagnosis of fragile X syndrome is suspected in males with moderate mental retardation and females with mild mental retardation.
Original estimates of 80:100,000 males affected with the syndrome (often still quoted in the fragile X literature) were based on the cytogenetic detection of FRAXA for confirmation of the diagnosis of fragile X syndrome in mentally retarded males.
The prevalence of females affected with fragile X syndrome is presumed to be approximately one-half the male prevalence.
www.geneclinics.org /profiles/fragilex/details.html   (4419 words)

  
 Fragile X syndrome - Wikipedia, the free encyclopedia
Fragile X Syndrome, also known as the Martin-Bell syndrome, is a syndrome of X-linked mental retardation.
Renpenning's syndrome is not synonymous with the Martin-Bell (fragile X) syndrome.
Escalante's syndrome is synonymous with the fragile X syndrome.
en.wikipedia.org /wiki/Fragile_X_syndrome   (1173 words)

  
 MSRGSNet/Genetic Drift/Management of Common Genetic Disorders
Fragile X syndrome is the most common cause of inherited mental retardation with an incidence of approximately 1 in 2000 male, and 1 in 2500 female, live births.
Fragile X syndrome is an X-linked disorder and occurs with equal frequency in all ethnic groups.
Fragile X syndrome is responsible for approximately 10% of all cases of inherited mental retardation and 30% of cases of X-linked mental retardation.
www.mostgene.org /gd/gdvol16d.htm   (1088 words)

  
 Fragile X syndrome - Genetics Home Reference
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
Mutations in the FMR1 gene cause fragile X syndrome.
ghr.nlm.nih.gov /condition=fragilexsyndrome   (861 words)

  
 Pediatric Advisor 2006.2: Fragile X Syndrome
Fragile X syndrome is a genetic disorder caused by a mutation (a change in the genetic information) of a specific gene.
In fragile X syndrome the gene mutation is on an X chromosome.
Children with fragile X syndrome have many strengths, including their social abilities (although shyness is common); a wonderful sense of humor; an excellent memory for people, events, and directions; intense interests; and outstanding imitation skills.
www.med.umich.edu /1libr/pa/pa_fragilex_hhg.htm   (1548 words)

  
 Fragile X Syndrome   (Site not responding. Last check: 2007-11-06)
Fragile X syndrome is the most commonly inherited form of mental retardation.
The syndrome is called “fragile-X” because there exists a fragile site or gap at the end of the long arm of the X-chromosome in lymphocytes of affected patients when grown in a folate deficient medium.
Most studies have dealt with recognition of this syndrome in older children and young adults, but many of the physical features, behavioral characteristics, and family history features are apparent earlier.
home.coqui.net /myrna/fragile.htm   (238 words)

  
 Fragile X Overview
Fragile X syndrome is the most common known cause of mental retardation and developmental disabilities, with an incidence of between 1:2500 and 1:4,000 births.
Fragile X is associated with a wide spectrum of characteristics, which may or may not be seen in a given individual.
Research shows that while fragile X syndrome is not a major cause of autism, about 15-25% of persons with fragile X syndrome may meet diagnostic criteria for autism at some point in their lives.
www.fpg.unc.edu /~fx/Pages/overvu.htm   (1730 words)

  
 Medical References: Fragile X Syndrome   (Site not responding. Last check: 2007-11-06)
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.
Fragile X syndrome can be passed from a carrier mother to her children.
The genetics of fragile X syndrome are complicated.
www.marchofdimes.com /professionals/681_9266.asp   (1599 words)

  
 MD Fragile X Homepage
The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome.
The fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome.
While the exact prevalence of Fragile X is unknown, recent studies indicate that 1 in 2000 boys and 1 in 4000 girls are estimated to be affected with Fragile X Syndrome.
www.mdfragilex.org   (374 words)

  
 BBC - Health - Conditions - Fragile X syndrome
Fragile X syndrome (or Martin-Bell syndrome) is the most common inherited cause of learning disability.
In fragile X, one of the genes on the X chromosome is faulty.
Fragile X affects about one in 2,000 males and one in 4,000 females of all races and ethnic groups.
www.bbc.co.uk /health/conditions/fragilex1.shtml   (565 words)

  
 What is Fragile X - Could it be caused from parents' being chemically overexposed to 2-butoxyethanol?  ... a ...
It includes fragile X syndrome (FXS), the most common cause of genetically-inherited mental impairment ranging from subtle learning disabilities and a normal IQ, to severe cognitive or intellectual challenges (often still referred to as mental retardation) including autism or "autistic-like" behavior.
Fragile X also includes fragile X-associated tremor ataxia syndrome (FXTAS), a balance, tremor and memory condition that affects some older male carriers of the premutation.
Fragile X can be passed on in a family by individuals with no apparent sign of the condition.
home.gci.net /~blessing/pages/fragilex.htm   (339 words)

  
 Fragile X Syndrome   (Site not responding. Last check: 2007-11-06)
Fragile X is an X-linked mutation disorder where he genetic mutation involves unstable trinucleotide repeats (CGG) associated with a fragile site near the tip of the long arm of the X chromosome.
Fragile X syndrome occurs in at least 1 in 1000 males.
This is because the father passes a Y chromosome to the son, and an X to the daughter.
www.dpo.uab.edu /~birmie/frag.htm   (526 words)

  
 © The Centre for Genetics Education   (Site not responding. Last check: 2007-11-06)
However females have two X chromosomes (XX) while males have an X chromosome and a Y chromosome: the other chromosomes (called the autosomes and numbered 1-22 according to their size) are the same in males and in females.
In those who are affected by the fragile X syndrome it is usually possible to see a particular feature (called a "fragile site") at the end of some of their X chromosomes when examined under a high powered microscope in a cytogenetics laboratory using special techniques.
Since the fragile X mutation is carried on the X chromosome, the pattern of inheritance of the resulting condition is called X-linked inheritance (see Genetics Fact Sheet 8).
www.genetics.com.au /factsheet/32.htm   (2012 words)

  
 Fragile X syndrome definition - Medical Dictionary definitions of popular medical terms
Fragile X syndrome: One of the most common causes of inherited mental retardation and neuropsychiatric disease in human beings, affects as many as one in 2000 males and one in 4000 females.
Although FMR1 is subject to X inactivation, abnormal methylation appears to contribute to the phenotype observed in mosaic patients.
Variation in the cognitive and behavioral phenotype of the fragile X syndrome has been demonstrated in intellectual functioning, learning disability, executive function, attention, hyperactivity, depression, anxiety, and autistic behaviors.
www.medterms.com /script/main/art.asp?articlekey=3517   (867 words)

  
 Public Health Genetics Unit : Fragile X Syndrome 2006
Fragile X syndrome is caused by mutation of the FMR-1 gene on the X chromosome.
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.
The unaffected mothers of fragile X individuals are invariably found to have an FMR-1 gene containing between 50 and 199 CGG repeats; this intermediate number is known as a premutation (PM).
www.phgu.org.uk /pages/info/diseases/fragilex.htm   (2072 words)

  
 Special Child: Disorder Zone Archives - Fragile X Syndrome   (Site not responding. Last check: 2007-11-06)
Fragile X is a genetic disorder that is caused by a break or weakness on the long arm of the X chromosome (females have two X chromosomes and males have one X and one Y).
Fragile X is estimated to occur in 1 in 1,200 males and 1 in 2,500 females.
Females tend to be more mildly affected by the fragile X gene than males because females have a second X chromosome to compensate for the defective gene on the affected X chromosome.
www.specialchild.com /archives/dz-008.html   (3187 words)

  
 Fragile X Syndrome
Because the symptoms of fragile X can be quite subtle, especially in young children, and because fragile X is so frequent in the general populations, many medical specialists recommend that testing for fragile X be considered for any individual with otherwise unexplained developmental delay or mental retardation.
The syndrome is more prevalent in males because they only have one X chromosome, where the gene for fragile X is carried, while women have two X chromosomes and the normal gene can compensate for the affected chromosome.
Fragile X Syndrome is caused by an abnormal gene on the bottom of the X chromosome.
www.nebraskagifted.org /eric/faq/fragilex.html   (2495 words)

  
 Fragile X Syndrome - DrGreene.com   (Site not responding. Last check: 2007-11-06)
Fragile X syndrome is the most common cause of mental retardation in boys.
Fragile X syndrome is a condition caused by a fragile area on the X chromosome.
The number of repeats in a fragile X chromosome tends to remain constant when transmitted by a father but to increase each time it is transmitted by a mother.
www.drgreene.com /21_1096.html   (560 words)

  
 What is Fragile X Syndrome?
What is Fragile X? Fragile X is a family of genetic conditions, which can impact individuals and families in various ways.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition.
The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984.
www.fragilex.org /html/what.htm   (269 words)

  
 eMedicine - Fragile X Syndrome : Article by Jennifer Jewell, MD   (Site not responding. Last check: 2007-11-06)
Fragile X syndrome is an inherited disorder and is present at birth.
The phenotype of fragile X syndrome is difficult to diagnose in prepubertal children.
Recommending prepregnancy or prenatal fragile X syndrome screening to women with a family history of fragile X syndrome or mental retardation and to women with learning difficulties and/or mental retardation is advisable.
www.emedicine.com /ped/topic800.htm   (3361 words)

  
 Center for the Study of Autism   (Site not responding. Last check: 2007-11-06)
Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation.
People with Fragile X syndrome also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities.
Also, families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder.
www.autism.org /fragilex.html   (318 words)

  
 MedlinePlus Medical Encyclopedia: Fragile X syndrome
Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome.
Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females.
There are very few outward signs of Fragile X syndrome in babies, but one is a tendency to have large head circumference.
www.nlm.nih.gov /medlineplus/ency/article/001668.htm   (598 words)

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