Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
Indian J Pediatr. 2010 Apr;77(4):447-9. doi: 10.1007/s12098-009-0288-6. Epub 2010 Jan 20.
Klinefelter's syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter's variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.
克莱恩费尔特综合征是一种性染色体非整倍体，由男性（47,XXY）中 X 染色体的增加引起。这种综合征与 X 和 Y 多态性的变体很少见。在这里，我们描述了来自印度南部的一种罕见的 48,XXXY 克莱恩费尔特综合征变体，其发病率为每 17000 至每 50000 名男性出生一例。这些个体中额外 X 染色体的存在对身体和认知功能有很大的影响，这可能归因于基因剂量效应和参与神经发生发育的基因。
