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Title: Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait
Authors: Bastaki, L.A.
Hegazy, F.
Al Heneidi, M.M.
Turki, N.
Azab, A.S.
Naguib, K.K.
Issue Date: 2004
Language: English
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
Description: 116-124
Keywords: Blotting, Southern
Cytogenetics
Fragile X Mental Retardation Protein
Genetic Screening
Incidence
Mental Retardation
Nerve Tissue Proteins
Puberty
Subject: Fragile X Syndrome
URI: http://www.who.int/iris/handle/10665/119389
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/1001_2/emhj_2004_10_1_2_116_124.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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