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

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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
Citation
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
Relation
EMHJ - Eastern Mediterranean Health Journal, 10 (‎1-2)‎, 116-124, 2004
Description
116-124
ISSN
1020-3397
Other Identifiers
http://applications.emro.who.int/emhj/1001_2/emhj_2004_10_1_2_116_124.pdf
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  • EMRO Journal Articles (‎EMHJ)‎
Language
English
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    Screening for beta-thalassaemia carriers in Egypt: significance of the osmotic fragility test 

    El Beshlawy, A.; Kaddah, N.; Moustafa, A.; Mouktar, G.; Youssry, I. (‎2007)‎
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