Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait
EMHJ-Eastern Mediterranean Health Journal. 2004; 10 (1-2): 116-124
in English
| IMEMR
| ID: emr-158266
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Genetic Testing
/
Blotting, Southern
/
Incidence
/
Puberty
/
Cytogenetics
/
Fragile X Mental Retardation Protein
/
Intellectual Disability
/
Nerve Tissue Proteins
Type of study:
Incidence study
Limits:
Humans
/
Male
Language:
English
Journal:
East Mediterr Health J.
Year:
2004
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