Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait
AbstractIn 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
Bastaki, L.A., Hegazy, F., Al Heneidi, M.M., Turki, N., Azab, A.S. et al. (2004). Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. http://www.who.int/iris/handle/10665/119389
EMHJ - Eastern Mediterranean Health Journal, 10 (1-2), 116-124, 2004
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