- 作者：Aurore Perrin ; Bruno Delobel ; Joris Andrieux ; Philippe Gosset ; Nadia Gueganic ; Florence Petit ; Marc De Braekeleer ; Fré ; dé ; ric Morel
- 关键词：Microdeletion ; array-CGH ; meiotic segregation ; recurrent miscarriage ; translocation
- 刊名：Fertility and Sterility
- 出版年：2010
- 出版时间：April 2010
- 年：2010
- 卷：93
- 期：6
- 页码：2075.e3-2075.e6
- 全文大小：274 K
Objective
To characterize a t(2;6) by array-based comparative genomic hybridization (array-CGH) in a couple with recurrent miscarriage, to analyze the meiotic segregation of the t(2;6), and to discuss couple specific care-taking modality before intracytoplasmic sperm injection.Design
Case report.
Setting
INSERM U613 in Brest, France.
Patient(s)
Couple consulting for infertility.
Intervention(s)
Array-CGH to characterize a t(2;6) and fluorescence in situ hybridization (FISH) to analyze the meiotic segregation were performed.
Main Outcome Measure(s)
Array-CGH, FISH with a panel of bacterial artificial chromosome clones and commercial probes.
Result(s)
Analyses from peripheral blood lymphocytes identified a t(2;6)(q35;q24) unbalanced reciprocal translocation with microdeletions on the der(2) and the der(6). FISH on spermatozoa found that the frequency of normal (23,X or 23,Y) or “translocation-deletions” (23,X,der(2),der(6) or 23,Y,der(2),der(6)) spermatozoa was 41.10 % .
Conclusion(s)
For our 46,XY,t(2;6)(q35;q24) carrier, more than 50 % of the spermatozoa are chromosomally unbalanced. Moreover, FISH does not permit a distinction between normal and “translocation-deletion” phenotypes. So, in the possibility of preimplantation genetic diagnosis, is it necessary to select the normal embryos to the detriment of those translocation-deletions carriers? The pathogenicity of these microdeletions not been proved. Because the family history was oriented toward a variation of genetic equipment without phenotypic consequences, the couple decided not to make a selection between the normal embryos and the translocation-deletion carrier embryos.