Alpha thalassaemia mental retardation (ATR-X): an atypical family.
case_report · Level V
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- Record sourced from PubMed, PMID 8017970.
- Also identified by PMC identifier 1029838.
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Abstract
A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.
Medical subject headings
- Intellectual Disability
- X Chromosome
- alpha-Thalassemia