PMID- 20056212
OWN - NLM
STAT- MEDLINE
DCOM- 20100416
LR  - 20100330
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 93
IP  - 6
DP  - 2010 Apr
TI  - Molecular cytogenetic analysis by genomic hybridization to determine the cause of 
      recurrent miscarriage.
PG  - 2075.e3-6
LID - 10.1016/j.fertnstert.2009.11.016 [doi]
AB  - 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.
CI  - Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier 
      Inc. All rights reserved.
FAU - Perrin, Aurore
AU  - Perrin A
AD  - Laboratoire d'Histologie, Embryologie et Cytogenetique, Faculte de Medecine et 
      des Sciences de la Sante, Universite de Brest, Brest, France.
FAU - Delobel, Bruno
AU  - Delobel B
FAU - Andrieux, Joris
AU  - Andrieux J
FAU - Gosset, Philippe
AU  - Gosset P
FAU - Gueganic, Nadia
AU  - Gueganic N
FAU - Petit, Florence
AU  - Petit F
FAU - De Braekeleer, Marc
AU  - De Braekeleer M
FAU - Morel, Frederic
AU  - Morel F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100113
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Abortion, Habitual/*diagnosis/etiology/genetics
MH  - Adult
MH  - *Comparative Genomic Hybridization
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Lymphocytes/cytology/metabolism
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - Pedigree
EDAT- 2010/01/09 06:00
MHDA- 2010/04/17 06:00
CRDT- 2010/01/09 06:00
PHST- 2009/07/10 00:00 [received]
PHST- 2009/09/16 00:00 [revised]
PHST- 2009/11/09 00:00 [accepted]
PHST- 2010/01/09 06:00 [entrez]
PHST- 2010/01/09 06:00 [pubmed]
PHST- 2010/04/17 06:00 [medline]
AID - S0015-0282(09)04045-X [pii]
AID - 10.1016/j.fertnstert.2009.11.016 [doi]
PST - ppublish
SO  - Fertil Steril. 2010 Apr;93(6):2075.e3-6. doi: 10.1016/j.fertnstert.2009.11.016. 
      Epub 2010 Jan 13.