Shu X, Zou C, Shen Z
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.
Balkan J Med Genet. 2013 Dec;16(2):85-90. doi: 10.2478/bjmg-2013-0038.
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.
一名患有与先天性心脏病（CHD）相关的双三体性的新生儿出生后出现青紫。他具有唐氏综合征（DS）的典型特征，包括眼距增宽、耳朵略低位且耳廓突出。多普勒超声心动图显示为复杂性先天性心脏病，伴有继发孔型房间隔缺损、右心室增大和轻度三尖瓣反流。进一步的染色体分析显示核型为48,XXY,+21：DS和克兰费尔特综合征（KS）的双三体性。迄今为止，仅报道过7例与CHD缺陷相关的双三体性病例。
