Double Aneuploidy 48,xxy,+21 Associated With a Congenital Heart Defect in a Neonate

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.

A Rare Double Aneuploidy Case (Down–Klinefelter)

“…According to the latest reported cases, there have been a few reported Down-Klinefelter's syndrome cases with cardiac defects. 4,5,9,13 However, this is the first case report of Down-Klinefelter's syndrome accompanying both heart defects and hypothyroidism.…”

“…7 According to literature review of double aneuploidy cases, the majority of the mothers were younger than 35. 5,6,8,9 The nonrandom aspect of double aneuploidy provides evidence that a hereditary predisposition to nondisjunction exists, with one chromosomal imbalance increasing the risk of another to occur. 4 While the genetic analysis of other double autosomal trisomies usually showed a predominantly maternal origin, as in single trisomies, 10 sex chromosomal trisomies can originate from either the mother or the father.…”

Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease

“…2 Following that, seven cases of 48, XXY,+21 were reported, out of whom one case presented CHD. [6][7][8][9] In the current report, the clinical features of a 2-monthold infant who exhibited 48,XXY,+21 double aneuploidy karyotype were presented.…”

Double Aneuploidy in Down Syndrome

“…Doppler echocardiography has been indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Until now, only eight cases of double aneuploidy associated with CHD defect has been reported [24].…”