Fragile X syndrome
hideFragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation.
The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, and results in a failure to express the FMR1 protein which is required for normal neural development. There are four generally accepted forms of Fragile X syndrome which relate to the length of the repeated CGG sequence; Normal (29-31 CGG repeats), Premutation (55-200 CGG repeats), Full Mutation (more than 200 CGG repeats), and Intermediate or Gray Zone Alleles (40 - 60 repeats).
Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
Renpenning's syndrome is not synonymous with the syndrome. In Renpenning's syndrome, there is no fragile site on the X chromosome. Renpenning's cases have short stature, moderate microcephaly, and neurological (brain) disorders.
Escalante's syndrome is synonymous with the fragile X syndrome. This term has been used in Brazil and other South American countries.
For more information about Fragile X syndrome, read the full article at
Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
News tagged with fragile x syndrome
Back to (brain) basics
Medicine & Health / Neuroscience
Nov 03, 2009 |
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(PhysOrg.com) -- In his own words, MIT neuroscientist Mark Bear admits he did not "wake up one day and say 'Hey, I'm going to cure autism.'" But, after decades of painstaking basic research on how the brain ...
Clinical tests begin on medication to correct Fragile X defect
Medicine & Health / Neuroscience
Nov 02, 2009 |
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NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common ...
Search results for fragile x syndrome
Bone Marrow Stem Cells May Prevent Chronic Lung Disease
17 hours ago |
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(PhysOrg.com) -- Researchers at Children's Hospital Boston have discovered a possible way to protect the fragile lungs of premature babies by using stem cells harvested from bone marrow. In experiments on laboratory mice, ...
Glucose intolerance in pregnancy associated with postpartum cardiovascular risk
Dec 01, 2009 |
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Women who have gestational glucose intolerance (a condition less severe than gestational diabetes) exhibit multiple cardiovascular risk factors as early as three months after birth, according to a new study accepted for publication ...
Physician urges changes in diagnosis for sore throat in young adults
Nov 30, 2009 |
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New analysis from the University of Alabama at Birmingham (UAB) suggests that physicians need to re-think their diagnosis and treatment of sore throat, or pharyngitis, in adolescents and young adults to consider a more newly ...
Rat pack: Scientists warming up to African rodent
Nov 28, 2009 |
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(AP) -- Naked mole rats don't get cancer. They shrug off brushes with acid and age so well, some are older than the college-aged researchers handling them.
UFO-obsessed Briton loses bid to block US extradition
Nov 26, 2009 |
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A Briton accused of hacking into US military and NASA computers faces extradition to the United States after the British government Thursday rejected last-ditch requests to block the move.
CDC: Swine flu vaccine safe; no big problems seen
Medicine & Health / Medications
Nov 25, 2009 |
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(AP) -- U.S. health officials say there's no evidence that the swine flu vaccine is causing any serious side effects.
Feeding the clock: Cycles of feeding and fasting drive circadian gene expression in the liver
Nov 25, 2009 |
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When you eat may be just as vital to your health as what you eat, found researchers at the Salk Institute for Biological Studies. Their experiments in mice revealed that the daily waxing and waning of thousands ...
New data emerges on liver transplant survival rates
Nov 25, 2009 |
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Researchers at the University of Miami School of Medicine compared the outcomes of cirrhotic patients who underwent liver transplants for nonalcoholic steatohepatitis (NASH) versus alcoholic liver disease (ETOH) and found ...
Comatose for 23 years, Belgian feels reborn
Nov 24, 2009 |
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(AP) -- Helped by a therapist, Rom Houben's outstretched finger tapped with surprising speed on a computer touchscreen, spelling out how he felt "alone, lonely, frustrated" in the 23 years he was trapped ...
New tool for helping pediatric heart surgery
Nov 24, 2009 |
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A team of researchers at the University of California, San Diego and Stanford University has developed a way to simulate blood flow on the computer to optimize surgical designs. It is the basis of a new tool that may help ...
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