Origins of the fragile X syndrome mutation.

Origins of the fragile X syndrome mutation.

The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, however, have failed to identify any cases of a new mutation. Alternatively, it has been suggested tha...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X Syndrome Full Mutation Females at Increased Risk for Mosaic Turner Syndrome: Fragile X Leads to Chromosome Loss

Fragile X Syndrome, the most common form of inherited mental retardation, is characterized by autistic behavior and mild to severe learning disabilities. The disease is caused by the expansion of a trinucleotide repeat located on the FMR1 (Fragile X Mental Retardation) gene located on the Xchromosome. Since the early 1990s, 348 prenatal female samples have been analyzed for Fragile X Syndrome a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...