Abstract

COSTA, Mailén  and  AVILA, Silvia. Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report. Arch. argent. pediatr. [online]. 2017, vol.115, n.5, pp.e282-e286. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e282.

The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.

Keywords : Double aneuploidy; Klinefelter Syndrome; Trisomy 18; Phenotype; Karyotype.

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