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Abstract
Causes of mental retardation are numerous with the fragile X syndrome is the most common cause of familial mental retardation and is one of the most frequent genetic diseases.
The present study was aimed to study group of children with Xlinked mental retardation to find out rate of chromosomal abnormalities including fragile X syndrome using conventional routine and non conventional karyotyping techniques.
The present study includes 20 index male patients with mental retardation, presented with symptoms and physical features suggestive of fragile X syndrome with X linked pattern of family pedigree attending the pediatric genetic clinic at Menoufiya university.
Detailed history, pedigree analysis, clinical assessment,
anthropometric measurements, routine investigations and cytogenetic study was carried out for each index patient.
They represent eleven families ; two isolated (with one affected case) and nine familial (with multiple affected cases).Two families out of the nine familial families express fragile site at Xq27.3 using cytogenetic study(2/9)22.2%.
Analysis of the demographic and the clinical data of aH index cases indicate the following;
The highest incidence of age of presentation is in late childhood (6ys-<l2ys), with mean age 8.2 ±1.73 (55% of all cases) reflecting subtle features in young children, lack of experience which in turn decrease detection rate and so the need of increasing the level of awareness.