What does a person with fragile X look like?
These features include a long and narrow face , large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet , and in males, enlarged testicles (macroorchidism) after puberty.
Why is fragile X worse in males?
The reason there are fewer females with FXS than males is that the gene for FXS is located on the X chromosome. Males, having only one X chromosome (XY), will develop FXS because there is a mutation of their single X chromosome.
Can males with Fragile X reproduce?
Both males and females with FXS are fertile. Girls are at risk for having children who also have FXS. Boys with FXS are premutation carriers, even though they themselves have the full mutation.
What do you know about fragile X syndrome?
Fragile X syndrome (FXS) is one of the most common causes of inherited intellectual disability. CDC is working to learn more about fragile X syndrome and fragile X-associated disorders to improve the health and well-being of people with these conditions. Think you know fragile X?
What is the prevalence of hyperactivity in Fragile X syndrome?
Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X mental retardation 1) gene on the X chromosome.
How does FXPOI affect fragile X syndrome?
FXPOI affects female premutation carriers of Fragile X syndrome, which is caused by the FMR1 gene, when their ovaries are not functioning properly. Women with FXPOI may develop menopause-like symptoms but they are not actually menopausal. Women with FXPOI can still get pregnant in some cases because their ovaries occasionally release viable eggs.
What is the PMID for Fragile X syndrome (FXS)?
PMC 4357282. PMID 24578575. ^ Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG (January 2018). “Rare FMR1 gene mutations causing fragile X syndrome: A review”.