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Archivos argentinos de pediatría
versión impresa ISSN 0325-0075versión On-line ISSN 1668-3501
Resumen
COSTA, Mailén y 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.
Palabras clave : Double aneuploidy; Klinefelter Syndrome; Trisomy 18; Phenotype; Karyotype.