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
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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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