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Klinefelter's syndrome (mosaic) with chromosome 9 inv and schizophrenia

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 k...

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Detalles Bibliográficos
Autores principales: Ponnudurai, R., Srinivasan, B., Sumitha, R., Koshy, Teena, Paul, Solomon S. D., Thiruvikraman, Rani, Anjana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339230/
https://www.ncbi.nlm.nih.gov/pubmed/22556446
http://dx.doi.org/10.4103/0019-5545.94655
Descripción
Sumario: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.