Balkan Journal of Medical Genetics

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

DISCUSSION

Double aneuploidy, the existence of two chromosome anomalies in the same person, is rare, which can involve autosomes (chromosome 13, 18 or 21) and sex chromosomes. The causes of aneuploidy are not well-documented, however, it is known that the most common chromosomal mechanism is meiotic non disjunction. The cause of non disjunction is also uncertain. Non disjunction can occur during meiosis I when the chromosome pairs fail to separate or during meiosis II when chromatids fail to separate. Generally, the mother contributes the extra chromosome The occurrence of double aneuploidy of DS combined with KS is unclear, not to mention the double aneuploidy associated with CHD. Approximately 65 cases of double aneuploidy of XXY and trisomy 21 have been published since 1959, and there are only eight cases associated with CHD [12- 14], including our case (Table 1). It is well known that 40.0-50.0% of patients with DS and half the patients with KS have CHD [15]. The incidence of cardiovascular anomalies in patients with 48,XXY,+21 karyo-type is not clear. To the best of our knowledge, only eight case reports of CHD in these patients have been published (Table 1). These patients have less vascular anomalies than the general population, probably because of an increased inhibition of vascular endothelial growth factor, whose genes are located on chromosome 21 [16]. In conclusion, DS-KS syndrome is an extremely rare condition. We present a case of 48,XXY,+21 karyotype with typical features of DS, whose parents were very young. Together with the other seven cases of double aneuploidy associated with CHD, the maternal ages are different, which do not support the maternal age effect. 21 in 85.0% and the father in 15.0%, of cases. However, the extra X chromosome is contributed by the parents contribution in 50.0% of cases. Our patient is an infant, who exhibited typical DS features with a 48,XXY,+21 karyotype, born at term to a 21-year-old mother and 23-year-old father. It is evident that the risk for trisomy 21 in offspring increases with maternal age, and the maternal age effect was also demonstrated in the 47,XXY aneuploidy [4]. A previous study also suggests women aged 20 through 24 years have the lowest prevalence rate of DS (1/1400 births), and for women aged 35 years, the rate is approximately 1/350 births, and for women over 45 years old, the rate rises to 1/25 births [5- 6]. Thus, maternal age-related factors seem to play a more important role in the etiology of 48,XXY, +21 than genetic predisposition. Kovaleva and Mutton [4] reported that the double aneuploidy of 48,XXY,+21 is age-dependent, with a mean maternal age of 33 and a mean paternal age of 37.9. However, in our case, the parents were very young. From the published cases, we can conclude that the paternal ages are remarkably different in patients with a double aneuploidy of 48,XXY,+21 associated with CHD (Table 1) [7-13]. The exclusion of advanced maternal age as risk factor for chromosomal non disjunction in the present case suggests the existence of other risk factors.

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