Molecular characterization of X chromosome fragility in idiopathic mental retardation

Conclusions A simplified checklist of fragile X should be used for patients with idiopathic MR and those patients above score 3 should be tested for FXS. The diagnostic assay may be used as a screening method for fragile X syndrome being rapid and cost effective compared to other techniques. In addition, screening of all relatives of proven patients should be performed to detect clinically unidentified cases for provision of proper counseling and optimal management of detected cases.
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research