Article
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
American journal of medical genetics - 30 Jan 1995
Gibbons R J, Brueton L, Buckle V J, Burn J, Clayton-Smith J, Davison B C, Gardner R J, Homfray T, Kearney L, Kingston H M
Abstract excerpt
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant c...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Erythrocyte Volume
- Female
- Genetic Linkage
- Hemoglobin H
- Heterozygote
- Humans
- Infant
- Intellectual Disability
- Male
- Pedigree
- Phenotype
- Syndrome
- X Chromosome
- alpha-Thalassemia