[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

Journal article

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, muscular hypotonia, delay of growth, genitourinary/skeletal abnormalities and characteristic facial dysmorphism. Molecular basis of the syndrome constitute mutations in ATR-X gene located on the long ...

Expand abstract

Authors: Szczałuba, K; Obersztyn, E; Nowakowska, B; Bernaciak, J; Fisher, C

• Journal: Medycyna wieku rozwojowego
• Volume: 15
• Issue: 4
• Pages: 437-444
• Publication date: 2011-10-01
• ISSN: 1428-345X
• Language: Polish