Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility
| Autor: | Aziza Lebbar, Nathalie Marle, Patrick Callier, Dominique Le Tessier, Françoise Baverel, Jean-Michel Dupont, Catherine Patrat, Francine Mugneret |
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| Rok vydání: | 2008 |
| Předmět: |
Infertility
Adult Male Genetic counseling Chromosomal translocation Genetic Counseling Biology Translocation Genetic Chromosome Painting Meiosis Genetics medicine Humans Genetics (clinical) Chromosome Aberrations Gene Rearrangement medicine.diagnostic_test Mosaicism Breakpoint Chromosome Karyotype Middle Aged medicine.disease Chromosome Banding Chromosome Inversion Cytogenetic Analysis Fluorescence in situ hybridization |
| Zdroj: | American journal of medical genetics. Part A. (20) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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