الفهرس 
Fragile X SyndromeOnly 14 pages are availabe for public view
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Abstract
T
he present study is a systematic attempt to find a rapid screening method of fragile X syndrome among male patients with isolated idiopathic mental retardation.
The current study included 64 males with idiopathic mental retardation. All patients underwent, history taking, and full clinical examination, blood sample for DNA analysis to detect FMR1 genotyping using a new PCR-based approach that combines modification of the betaine protocol with a use of a CGG-targeted (chimeric) primer.
57.8% were above 10 years and 42.2% were below 10 years, their IQ ranges from mental subnormal to profound. 12.5% had full mutation, and 9.4 % had permutation. We found similar prevalence of the fragile X syndrome among mentally retarded individuals in Middle East as reported from Kuwait, Saudi Arabia and turkey. The high prevalence in Middle East was due to clinical preselection for DNA testing for FXS in mentally retarded males using a scoring list. The scoring list included family history of MR, long face, large prominent ears, hyperextensibility of the finger joints, macro-orchidism (in post pubertal males), hyperactivity, autistic features and unusual speech pattern.
57.1 % of fragile X children in the present study had positive family history for mental retardation either from the paternal or maternal side, 35.7% fragile X positive cases had macroorchadism, 57.1% had autistic like behavior, 64.3% had hyperactivity, 71.4 % had speech problems, 50% had long faces, 57.1% had hyperextensability of joints, 78.6% had large ears, 35.7 % had a history of seizures and or abnormal EEG finding. The mean score for fragile X group with permutation was 3.64 and for fragile X full mutation was 5.5.indicating that genetic analysis of the fragile X syndrome can be restricted to selected males.
There was a significant association between large prominent ears, hyperextansbility of joints and macro-orchadism (in postpubertal males) and FXS diagnosis.
The current method is a rapid, inexpensive screening tool that would be capable of detecting all expanded alleles in both males and females.
The present study concluded that, using of simple checklist with current new PCR technique would eliminate most of fragile X testing leading to negative results without missing any affected male.