title: Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait.
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.
authors.affiliation: Kuwait Medical Genetics Centre, Kuwait.
authors.forename: L A
authors.initials: LA
authors.lastname: Bastaki
authors.forename: F
authors.initials: F
authors.lastname: Hegazy
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Heneidi
authors.forename: N
authors.initials: N
authors.lastname: Turki
authors.forename: A S
authors.initials: AS
authors.lastname: Azab
authors.forename: K K
authors.initials: KK
authors.lastname: Naguib
mesh_terms: D000367:Age Factors; D015139:Blotting, Southern; D003582:Cytogenetics / Q000379:methods; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D007730:Kuwait / Q000453:epidemiology; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D011446:Prospective Studies; D011627:Puberty; D016601:RNA-Binding Proteins / Q000235:genetics; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D013997:Time Factors; D014888:Wechsler Scales
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human