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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.

Original publication




Journal article


J Med Genet

Publication Date





738 - 741


Adolescent, Adult, Child, Preschool, Face, Female, Genetic Linkage, Heterozygote, Humans, Intellectual Disability, Male, Pedigree, Phenotype, Syndrome, Thalassemia, X Chromosome