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Article

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling

20 Oct 2011

Abstract excerpt

BACKGROUND: Most individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism in somatic and germinal tissues in KS, the meiotic...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 22016414
DOI: 10.1093/humrep/der351

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