PMID- 21367411
OWN - NLM
STAT- MEDLINE
DCOM- 20110728
LR  - 20110523
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 95
IP  - 7
DP  - 2011 Jun
TI  - Meiotic segregation of complex reciprocal translocations: direct analysis of the 
      spermatozoa of a t(5;13;14) carrier.
PG  - 2433.e17-22
LID - 10.1016/j.fertnstert.2011.01.159 [doi]
AB  - OBJECTIVE: To directly study the meiotic segregation of a complex reciprocal 
      translocation (CCR) as well as the occurrence of an interchromosomal effect. 
      DESIGN: In situ sperm fluorescence in situ hybridization (FISH) analysis. 
      SETTING: Department of Cytogenetics and INSERM research center. PATIENT(S): A 
      male carrier of a balanced complex reciprocal translocation 
      t(5;13;14)(q23;q21;q31). INTERVENTION(S): Sperm samples from the carrier and 
      direct FISH analysis on sperm slide preparations. MAIN OUTCOME MEASURE(S): 
      Meiotic segregation pattern determined on sperm nuclei and estimation of the 
      incidence of unbalanced spermatozoa and an interchromosomal effect (ICE). 
      RESULT(S): Only 27% of spermatozoa displayed a normal or balanced chromosome 
      complement. The rate of unbalanced sperm was 69.4%, including different types of 
      3:3, 4:2, and 5:1 segregations. There was no evidence for the occurrence of an 
      interchromosomal effect in autosomal chromosomes, but the gonosomes displayed a 
      statistically significant increase in disomy rates. CONCLUSION(S): These results 
      are consistent with the formation of a hexavalent configuration at the pachytene 
      stage of meiosis and a high prevalence of imbalance production. The mechanisms of 
      formation of CCRs must be examined with regard to these direct results and new 
      molecular data on the formation of genomic rearrangements.
CI  - Copyright (c) 2011 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Pellestor, Franck
AU  - Pellestor F
AD  - INSERM U 847, Institute for Research in Biotherapy, CHRU Montpellier, Universite 
      Montpellier 1, and Department of Cytogenetics, Hopital Arnaud de Villeneuve, CHRU 
      Montpellier, Montpellier, France. f-pellestor@chu-montpellier.fr
FAU - Puechberty, Jacques
AU  - Puechberty J
FAU - Weise, Anja
AU  - Weise A
FAU - Lefort, Genevieve
AU  - Lefort G
FAU - Anahory, Tal
AU  - Anahory T
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Sarda, Pierre
AU  - Sarda P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110302
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Abortion, Habitual/*genetics/pathology
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosome Segregation
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 14
MH  - *Chromosomes, Human, Pair 5
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Meiosis/*genetics
MH  - Pregnancy
MH  - Sperm Count
MH  - Sperm Motility
MH  - Spermatozoa/*pathology
MH  - *Translocation, Genetic
EDAT- 2011/03/04 06:00
MHDA- 2011/07/29 06:00
CRDT- 2011/03/04 06:00
PHST- 2010/04/20 00:00 [received]
PHST- 2011/01/10 00:00 [revised]
PHST- 2011/01/21 00:00 [accepted]
PHST- 2011/03/04 06:00 [entrez]
PHST- 2011/03/04 06:00 [pubmed]
PHST- 2011/07/29 06:00 [medline]
AID - S0015-0282(11)00238-X [pii]
AID - 10.1016/j.fertnstert.2011.01.159 [doi]
PST - ppublish
SO  - Fertil Steril. 2011 Jun;95(7):2433.e17-22. doi: 10.1016/j.fertnstert.2011.01.159. 
      Epub 2011 Mar 2.