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Am J Med Genet A. 2008 Oct 15;146A(20):2651-6. doi: 10.1002/ajmg.a.32499.

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

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  • 1APHP, Hopital Cochin-Laboratoire de Cytogénétique, Paris, France. aziza.lebbar@cch.aphp.fr


Structural chromosomal abnormalities can be associated with infertility through meiosis impairment or the formation of unbalanced gametes. Among these structural abnormalities, complex chromosomal rearrangements (CCR) relate to situations with more than two breakpoints and/or more than two chromosomes involved. Mosaic balanced chromosomal rearrangements are very rare events usually ascertained through infertility, recurrent miscarriages or liveborn abnormal children. Mosaicism for complex chromosome rearrangements (CCRM) has never been described to date. Here we report on two patients with secondary infertility whose karyotype revealed mosaic partially cryptic CCRs, revealed by fluorescence in situ hybridization (FISH). To our knowledge, this is the first report of mosaicism for complex chromosomal rearrangements (CCRM). We discuss the importance of molecular cytogenetic characterization of structural rearrangements to assist in genetic counseling related to the possible use of assisted reproductive technology.

2008 Wiley-Liss, Inc.

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