title: X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
abstract: We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.
authors.affiliation: Unit of Clinical Genetics and Fetal Medicine, The Hospitals for Sick Children, London.
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: R J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D013789:Thalassemia / Q000150:complications / Q000235:genetics*; D014960:X Chromosome