Department of Psychiatry, Sri Ramachandra University, Porur, Chennai, Tamil Nadu, India.
Indian J Psychiatry. 2012 Jan;54(1):88-90. doi: 10.4103/0019-5545.94655.
Klinefelter's syndrome is a sex chromosome abnormality with low androgen level. The varied manifestations of the mental symptoms in some of them, that are inexplicable based on their genotype alone, has fascinated the researchers. We present here a case of Klinefelter's syndrome having a karyotype of mos 47, XXY, and also inversion in 9(th) chromosome, with schizophrenia. Despite the view that inv 9 is a normal variant, it is still worthwhile to explore whether it has any role in the etiology of schizophrenia especially when it occurs with other genotypic aberrations that are suspected to have relevance to psychiatric disorders including the Klinefelter's syndrome.
克莱恩费尔特综合征是一种性染色体异常，伴有低雄激素水平。其中一些患者的精神症状表现多样，仅凭其基因型无法解释，这引起了研究人员的关注。我们在此介绍一例克莱恩费尔特综合征患者，其核型为 mos 47, XXY，同时存在 9 号染色体倒位，伴有精神分裂症。尽管人们认为 inv 9 是一种正常的变体，但仍值得探讨它是否在精神分裂症的病因学中起作用，特别是当它与其他被怀疑与包括克莱恩费尔特综合征在内的精神障碍有关的基因型异常同时发生时。
