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 unbalan...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Gene Deletion
- Humans
- Intellectual Disability
- Mutation
- Pedigree
- Sex Chromosome Aberrations
- Syndrome
- Transcription, Genetic
- Translocation, Genetic
- X Chromosome
- alpha-Thalassemia