X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Journal article

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 re...

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Authors: Wilkie, A; Gibbons, R; Higgs, D; Pembrey, M

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 28
• Issue: 11
• Pages: 738-741
• Publication date: 1991-11-01
• DOI: 10.1136/jmg.28.11.738
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Face; Mental Retardation; Syndrome; X Chromosome; Adolescent; Child, Preschool; Humans; Adult; Male; Pedigree; Phenotype; Heterozygote; Genetic Linkage; Thalassemia; Female