Open AccessKlinefelter′s syndrome (mosaic) with chromosome 9 inv and schizophrenia
Author(s) -
R Ponnudurai,
Bhadrinath Srinivasan,
R Sumitha,
Teena Koshy,
Solomon F.D. Paul,
Thiruvikraman,
Anjana Rani
Publication year - 2012
Publication title -
indian journal of psychiatry/indian journal of psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.485
H-Index - 34
eISSN - 1998-3794
pISSN - 0019-5545
DOI - 10.4103/0019-5545.94655
Subject(s) - klinefelter syndrome , schizophrenia (object oriented programming) , karyotype , psychiatry , abnormality , medicine , etiology , psychology , chromosomal abnormality , chromosome , genetics , bioinformatics , pediatrics , biology , gene
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.