Alpha thalassaemia mental retardation (ATR-X): an atypical family.
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.
Clinical Genetics Service, Western General Hospital, Edinburgh.
L J
LJ
Logie
R J
RJ
Gibbons
D R
DR
Higgs
J K
JK
Brown
M E
ME
Porteous
D000293:Adolescent; D005147:Facial Bones / Q000002:abnormalities; D008040:Genetic Linkage; D006447:Hemoglobin H / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D014960:X Chromosome; D017085:alpha-Thalassemia / Q000235:genetics / Q000523:psychology*
D006447:Hemoglobin H