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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
While initially described as affecting male carriers, female carriers of the FMR1 gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop dementia or classic ataxia and tremor, instead demonstrating symptoms such as fibromyalgia, thyroid disease, hypertension, and ...
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...
When the expansion reaches the danger range, the carrier is still unaffected, but the risk of further mutation becomes significant. This is called the premutation range. Once the fragile X syndrome emerges, symptoms worsen from generation to generation because of the self-promoting aspect of the mutation. [2]
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Two to 5% of women with POI and a premutation in FMR1, a genetic abnormality, are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. [8] [6] The diagnosis is based on ages less than 40, amenorrhea, and elevated serum follicle-stimulating hormone (FSH) levels. [4]
The former CEO of Abercrombie & Fitch (A&F) has dementia and late onset Alzheimer's disease, his legal team has said in a court document filed in New York. Lawyers for Mike Jeffries have requested ...