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

L. GarciaQuevedo | Zendy; Joan Blanco | Zendy; Zaida Sarrate | Zendy; Vicenç Català | Zendy; L. Bassas | Zendy; Francesca Vidal | Zendy

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

Author(s) -

L. GarciaQuevedo,

Joan Blanco,

Zaida Sarrate,

Vicenç Català,

L. Bassas,

Francesca Vidal

Publication year - 2011

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/der351

Subject(s) - aneuploidy , klinefelter syndrome , biology , meiosis , testicular sperm extraction , karyotype , germ cell , buccal swab , andrology , genetics , chromosome , cytogenetics , azoospermia , infertility , endocrinology , pregnancy , medicine , gene

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 competence of 47,XXY germ cells and the aneuploidy rate of post-reductional cells.

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