Resumen

LEMES, Aída et al. Un fenotipo clínicamente reconocible: síndrome alfa-talasemia con retraso mental ligado al cromosoma X (ATR-X). Análisis clínico y molecular en dos hermanos. Arch. Pediatr. Urug. [online]. 2009, vol.80, n.2, pp.123-128. ISSN 1688-1249.

ATR-X syndrome is an X-linked disorder which affects boys. The syndrome is characterized by severe development delay and mental retardation, characteristic facial features, genital abnormalities, and anemia. Generally, female carriers are physical and intellectually normal. At present, about 168 patients have been reported. Here, we describe two brothers who have the ATR-X syndrome with typical clinical characteristics with some neurological and hematological variations between both of them. The diagnosis, originally suspected because of similarity in dysmorphic features to previous cases and the genealogical information, was defined haematologically with the demonstration of haemoglobin HbH inclusions in red blood cells after incubation with brilliant cresyl blue (BCB). Molecular analyses in the ATRX gene showed the common mutation 736C>T in both patients. The objective of the present work is to alert pediatrician to ATR-X syndrome which involves mental retardation in affected boys with a clinical phenotype easily recognized. To our knowledge, these are the first patients with molecular definition reported in South America.

Palabras clave : ALPHA-THALASSEMIA;  MENTAL RETARDATION, X-LINKED;  HEMOGLOBIN H.

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