Lebbar Aziza, Callier Patrick, Baverel Françoise, Marle Nathalie, Patrat Catherine, Le Tessier Dominique, Mugneret Francine, Dupont Jean-Michel
APHP, Hopital Cochin-Laboratoire de Cytogénétique, Paris, France.
Am J Med Genet A. 2008 Oct 15;146A(20):2651-6. doi: 10.1002/ajmg.a.32499.
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.
结构性染色体异常可通过减数分裂损伤或不平衡配子的形成与不孕相关。在这些结构性异常中，复杂染色体重排（CCR）涉及两个以上断点和/或两个以上染色体的情况。镶嵌型平衡染色体重排是非常罕见的事件，通常通过不孕、反复流产或存活的异常儿童得以确诊。迄今为止，尚未有关于复杂染色体重排镶嵌现象（CCRM）的描述。在此，我们报告两例继发性不孕患者，其核型显示为镶嵌型部分隐匿性CCR，通过荧光原位杂交（FISH）检测发现。据我们所知，这是首例关于复杂染色体重排镶嵌现象（CCRM）的报告。我们讨论了结构重排的分子细胞遗传学特征对于辅助生殖技术可能应用相关遗传咨询的重要性。
