Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait

Abstract

In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction [‎PCR]‎ testing. Twenty patients [‎11%]‎ were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 [‎55%]‎ were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact [‎45%]‎, autism [‎45%]‎ and seizures [‎30%]‎. Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different