Open AccessFragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait
Author(s) -
Lailá Bastaki,
F Hegazy,
M M Al-Heneidi,
N Turki,
Al Azab,
Kamal K. Naguib
Publication year - 2004
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/2004.10.1-2.116
Subject(s) - fragile x syndrome , mentally retarded , forehead , locus (genetics) , fragile x , medicine , pediatrics , autism spectrum disorder , autism , genetics , psychology , psychiatry , biology , surgery , developmental psychology , gene
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