Fragile X syndrome is an X-linked mental retardation syndrome. The majority of fragile X cases are caused by expansion of the (CGG)n repeat in the promoter region of the FMR1 gene on chromosome Xq27.3
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
10 days pre screen, 20 days Amplidex testing
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis