DIAGNOSIS OF FRAGILE X SYNDROME

Fragile X syndrome was originally diagnosis by cultıring cells in a folete deficient medium and then assessing the cultures for X chromosome breakage by cytogenetic analysis of the long arm of the X chromosome also diagnosisFragile X syndrome is difficult to diagnose in children.

An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.

A blood test known as FMR1/DNA is used to confirm the diagnosis.