X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
Open Access
- 1 November 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (11) , 738-741
- https://doi.org/10.1136/jmg.28.11.738
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.Keywords
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