So called as there is a ‘fragile site’ on the X chromosome. This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a trinucleotide expansion mutation, but is usually inherited in an X-linked recessive pattern. Fragile X syndrome is the second most common cause of genetic learning difficulty after Down’s Syndrome.
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over 6 years ago
(Disclaimer: The medical information contained herein is intended for physician medical licensing exam review purposes only, and are not intended for diagnos...
over 5 years ago
A blood test may shed new light on Fragile X syndrome related disorders in women, according to a new study published in the March 25, 2015, online issue of Neurology, the medical...
over 5 years ago
Kanner’s infantile autism and Asperger’s syndrome -- Pearce 76 (2): 205 -- Journal of Neurology, Neurosurgery & Psychiatry
Recent much publicised attention to autism and its putative relation to the measles, mumps, and rubella (MMR) vaccination reminds us that autism affects approximately 4 in 10 000 of the population. It is characterised by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Much of the psychiatric literature appears to overlook the organic basis,1 with subtle neurological signs evident in many examples: learning difficulties, a high incidence of epilepsy, viral infections, tuberous sclerosis, and fragile X syndrome are known associations.
almost 5 years ago