|Title:||Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait|
Al Heneidi, M.M.
|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|
Fragile X Mental Retardation Protein
Nerve Tissue Proteins
|Subject:||Fragile X Syndrome|
|Appears in Collections:||EMRO Journal Articles (EMHJ)|
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