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Hum. Reprod. Advance Access published online on February 16, 2006
Human Reproduction, doi:10.1093/humrep/dei426
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received October 6, 2005
Revised November 4, 2005
Accepted November 7, 2005

Article

Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes

D. Bettio 1 *, A. Venci 1, N. Rizzi 1, L. Negri 2, and P. Levi Setti 2

1 Laboratory of Cytogenetics and Molecular Genetics, Humanitas Clinical Institute, Rozzano, Milan, Italy
2 Operative Unit of Reproductive Medicine, Humanitas Clinical Institute, Rozzano, Milan, Italy

* To whom correspondence should be addressed.
D. Bettio, E-mail: daniela.bettio{at}humanitas.it


  Abstract

Isodicentrics (idic) are structural anomalies of the Y chromosome associated with a 45,X cell line and a broad spectrum of phenotypes. We characterized the rearranged Y chromosomes from three azoospermic males by fluorescence in-situ hybridization (FISH) and PCR. Chromosome study was performed on lymphocytes and testicular biopsy. FISH analysis and PCR established the degree of mosaicism and analysed specific Y regions. Two patients showed a 45,X/46,X,?idic(Y) karyotype with varying degrees of mosaicism. FISH demonstrated the presence of two centro-meres and two SRY regions. In the lymphocytes of the third patient, the presence of a small Y-derived marker was also observed. An additional cell line with two idic(Y) was present in the testicular biopsy of the same patient. PCR showed the breakpoint between SY182 (KALY) and SY121 in Yq11.221-q11.222 region in all the cases. For the evaluation of the mosaicism, different tissues must be investigated. The phenotypical sex depends more on the number of copies of the SRY gene rather than on the percentage of 45,X cells, at least in the gonads. The combined use of classical and molecular cytogenetics is necessary for delineating the chromosome regions involved allowing a better genotype-phenotype correlation.

Keywords: dicentric Yp/fluorescence in-situ hybridization/genotype-phenotype correlation/mosaicism/PCR.
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