Abstract

CHIONG QUESADA, Carmen María; MARTIN CUESTA, Nelson H; HERNANDEZ HERNANDEZ, Roberto  and  CHIONG QUESADA, Martín. 48, XXXY syndrome: a case report. AMC [online]. 2010, vol.14, n.1, pp. 0-0. ISSN 1025-0255.

A 21 years old masculine white patient with facial dysmorphia, hypogenitalism, skeletal anomalies and severe mental delay was presented. For the diagnosis of this affection the clinical method through the comparative or pattern technique was applied. The chromosomal study was carried out in peripheral blood, conventional techniques were used being confirmed the diagnosis of the 48, XXXY Syndrome. It is important to take into account the clinical manifestations before mentioned in order to establish early diagnosis, rehabilitate these patients physically - psychically and socially and to offer a genetic counselling to the family.

Keywords : genetic counseling; Klinefelter Syndrome [diagnosis].

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