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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Klinefelter's syndrome (mosaic) with chromosome 9 inv and schizophrenia
R Ponnudurai1, B Srinivasan, R Sumitha
1Department of Psychiatry, Sri Ramachandra University, Porur, Chennai, Tamil Nadu, India. ponnudurai@vsnl.net
Abstract:
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.
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