Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome | Zendy

Petra Lenz | Zendy; C. Marc Luetjens | Zendy; Axel Kamischke | Zendy; B. Kühnert | Zendy; Ingo Kennerknecht | Zendy; Eberhard Nieschlag | Zendy

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Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome

Author(s) -

Petra Lenz,

C. Marc Luetjens,

Axel Kamischke,

B. Kühnert,

Ingo Kennerknecht,

Eberhard Nieschlag

Publication year - 2005

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/deh745

Subject(s) - klinefelter syndrome , karyotype , aneuploidy , biology , male infertility , fluorescence in situ hybridization , chromosome , infertility , gynecology , andrology , medicine , genetics , endocrinology , pregnancy , gene

Gonosomal aneuploidies such as Klinefelter syndrome (47,XXY) are the most frequent chromosomal aberration in infertile men. Normally the chromosomal status of patients is detected by karyotyping of up to 20 metaphase spreads of lymphocyte nuclei, whereby low grade mosaicism may be overlooked. To test whether Klinefelter patients with 47,XXY karyotype or infertile men with 46,XY karyotype represent gonosomal mosaicisms, we performed meta- and interphase fluorescence in situ hybridization (FISH) on 45 men.

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