Article
The alpha-thalassemia/mental retardation syndromes.
Medicine - 1 Mar 1996
Gibbons R J, Higgs D R
Abstract excerpt
The chromosome-16 and the X-chromosome forms of alpha-thalassemia--ATR-16 and ATR-X--exemplify 2 important causes of syndromal mental retardation. ATR-16 is a contiguous gene syndrome which arises from loss of DNA from the tip of chromosome 16p13.3 by truncation, interstitial deletion, or unbalanced translocation. It provided the first example of a chromosome translocation that could be detected by molecular...
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