Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate

X Shu; C Zou; Z Shen

doi:10.2478/bjmg-2013-0038

Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate

Balkan J Med Genet. 2013 Dec;16(2):85-90. doi: 10.2478/bjmg-2013-0038.

Authors

X Shu¹, C Zou¹, Z Shen¹

Affiliation

¹ Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People's Republic of China.

Abstract

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported.

Keywords: 48,XXY,+21; Congenital heart defect (CHD); Double aneuploidy; Down syndrome (DS); Klinefelter syndrome (KS).

Publication types

Case Reports