Fragile X mental retardation in an indonesian family

Abstract

Fragile X syndrome is the most common form of familial mental retardation and is associated with a fragile site at the end of long arm chromosome X. Whilst screening for chromosomal abnormalities in mentally retarded males attending special school, we have identified the first family with a fragile X syndrome, to be reported in Indonesia. Physical examination, family, history, as well as cytogenetic and DNA studies identified two phenotypically abnormal brothers who were fragile X positive 3% (Dm) and 4% (Pr). Their sister (Cl) and mother were phenotypically and intellectually normal but were cytogenetically positive for fragile X (6% in the sister and 3% in lhe mother). Molecular analysis confirmed that both brothers were affected and that their sister and mother were carriers.