| Riassunto: | 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 arm of X chromosome (Xq13). In this work, clinical characteristics of the molecularly confirmed case of ATR-X syndrome in two brothers are presented. The mother of both affected boys is an asymptomatic mutation carrier. In one of the brothers additional studies revealed the presence of de novo 1q21.1 microdeletion. ATR-X syndrome symptomatology, differential diagnostics issues as well as the aims of genetic counselling are described.
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