The alpha-thalassemia/mental retardation syndromes.

Journal article

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 analysis but not conventional cytogenetics. It also provided the first example of a t...

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Authors: Gibbons, R; Higgs, D

• Publication status: Published
• Journal: Medicine
• Volume: 75
• Issue: 2
• Pages: 45-52
• Publication date: 1996-03-01
• DOI: 10.1097/00005792-199603000-00001
• EISSN: 1536-5964
• ISSN: 0025-7974
• Language: English
• Keywords: alpha-Thalassemia; Chromosome Disorders; Sex Chromosome Aberrations; Transcription, Genetic; Mutation; X Chromosome; Humans; Chromosome Mapping; Pedigree; Mental Retardation; Gene Deletion; Chromosomes, Human, Pair 16; Translocation, Genetic; Chromosome Aberrations; Syndrome