Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.
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.


METHODS
Case report.


METHODS
INSERM U613 in Brest, France.


METHODS
Couple consulting for infertility.


METHODS
Array-CGH to characterize a t(2;6) and fluorescence in situ hybridization (FISH) to analyze the meiotic segregation were performed.


METHODS
Array-CGH, FISH with a panel of bacterial artificial chromosome clones and commercial probes.


RESULTS
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%.


CONCLUSIONS
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.
Perrin
Aurore
A
Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.
Delobel
Bruno
B
Andrieux
Joris
J
Gosset
Philippe
P
Gueganic
Nadia
N
Petit
Florence
F
De Braekeleer
Marc
M
Morel
Frédéric
F
D000026:Abortion, Habitual / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D000328:Adult; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree