Double Aneuploidy: A Case of Trisomy 21 with XYY
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Resit Köken 1, Aysegul Bükülmez 1, Gülengül Nadirgil Köken 1, Betül Eser 2 * , Hale Samlı 1, Tevfik Demir 1, Mustafa Solak 1
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1 Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Türkiye2 Selcuk University, Faculty of Meram Medicine, Department of Medical Genetic, Konya, Türkiye* Corresponding Author

Abstract

Although aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are very rare. Here we report a case of double aneuploidy involving chromosomes 21 and Y in a 5 day old baby with jaundice and polycythemia. The diagnosis was confirmed by karyotype analysis using modified “whole blood” and microtechnique methods followed by Giemsa-Trypsin-Leishman (GTL) banding technique. The patient had typical features of Down syndrome, however, phenotypic features of XYY was not present. In addition, the patient also had atrial septal defect, multiple trabecular small ventricular septal defect, and moderate degree of pulmonary hypertension. Etiological predisposing factor for 48,XYY,+21 is not known. It is difficult to determine the incidence, phenotypic properties, and recurrence risk of 48,XYY,+21.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

EUR J GEN MED, Volume 8, Issue 4, October 2011, 338-341

https://doi.org/10.29333/ejgm/82767

Publication date: 11 Oct 2011

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