DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE
Shu X, Zou C, Shen Z*
*Corresponding Author: Zheng Shen, M.D., The Children’s Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, People’s Republic of China; Tel.: +86-13575743518; Fax: +86-571- 87033296; E-mail: shenzheng@tom.com
page: 85

INTRODUCTION

A chromosome abnormality reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes including autosomes and sex chromosomes. Trisomy 21, also named Down syndrome (DS), is caused by the presence of an additional autosome, affecting 1/700 live births [1]. Klinefelter syndrome (KS) is a genetic condition in which humans have an extra X chromosome, resulting in a 47,XXY karyotype [2]. This karyotype exists in roughly between 1/500 to 1/1000 live male births, while most people do not show symptoms [3]. Though trisomy 21 and numerical sex chromosome anomalies are both common chromosome disorders, the cooccurrence of chromosomes 21 and X is rare [4]. Several cases of double aneuploidy of XXY and trisomy 21 have been published since the first report by Ford et al. [5] in 1959; only seven patients suffered from aneuploidy (DS + KS) associated with congenital heart defect (CHD) [5-7]. The effect of maternal age is certainly demonstrated in trisomy 21 and 47,XXY aneuploidy, respectively [4]. Herein, we described a case of 1-day-old boy who exhibited the karyotype of 48,XYY,+21 with CHD, who was born to young parents.



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