In fragile-X syndrome,

Question

Quizplus · Accepted Answer

Fragile-X syndrome is caused by a CGG trinucleotide repeat expansion in the FMR1 gene on the X chromosome. This expanded repeat region can create a fragile site in the chromosome, which is prone to breakage during certain types of cell division. This repeat expansion is more common and potentially more severe in males, but females can still be affected. The disorder is associated with intellectual disability, and while some individuals with fragile-X syndrome may have intellectual disability, not all do. The inheritance pattern is X-linked dominant but a variable phenotype is observed.

In Fragile-X Syndrome