PMID- 22406402
OWN - NLM
STAT- MEDLINE
DCOM- 20120822
LR  - 20220317
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 55
IP  - 4
DP  - 2012 Apr
TI  - Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and 
      rob(15;22) robertsonian translocation undergoing PGD.
PG  - 245-51
LID - 10.1016/j.ejmg.2012.02.003 [doi]
AB  - The majority of fluorescence in situ hybridization (FISH) studies on the meiotic 
      segregation of Robertsonian translocations focus on the most common types, 
      rob(13; 14) and rob(14; 21). Here we report the first study for carriers of rare 
      Robertsonian translocations rob(13; 21) and rob(15; 22) combining analysis of 
      meiotic segregation in sperm and blastomeres following pre-implantation genetic 
      diagnosis (PGD). Dual-colour FISH was applied to nuclei from spermatozoa and 
      blastomeres from PGD embryos using two subterminal contig probes for each 
      translocation, and a second round with probes for chromosomes 16 and 18. Patient 
      1 had a rob(13; 21) and patient 2 had a rob(15; 22), and 86.3% and 87.5% of 
      gametes respectively were consistent with meiotic segregation resulting in a 
      normal or balanced chromosome complement. Analysis of embryos showed that for 
      patient 1 and 2 respectively, 25% and 46% were balanced, and of the unbalanced 
      embryos, 50% and 31% were mosaic or chaotic. Our patients with a rob(13; 21) and 
      rob(15; 22) were found to have a similar meiotic segregation pattern to that for 
      male carriers of the common Robertsonian translocations. The observed rate in 
      unbalanced embryos being mosaic or chaotic may result in an increased risk of 
      chromosomal abnormalities. Our results may help to improve the genetic counseling 
      for carriers of rare Robertsonian translocations.
CI  - Copyright (c) 2012 Elsevier Masson SAS. All rights reserved.
FAU - Bernicot, Izabel
AU  - Bernicot I
AD  - Unite de Cytogenetique DPI, Departement de Biologie de la Reproduction, CHU 
      Montpellier, Hopital Arnaud de Villeneuve, 34295 Montpellier, France.
FAU - Schneider, Anouck
AU  - Schneider A
FAU - Mace, Alexandra
AU  - Mace A
FAU - Hamamah, Samir
AU  - Hamamah S
FAU - Hedon, Bernard
AU  - Hedon B
FAU - Pellestor, Franck
AU  - Pellestor F
FAU - Anahory, Tal
AU  - Anahory T
LA  - eng
PT  - Journal Article
DEP - 20120222
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Adult
MH  - Blastocyst/*metabolism/pathology
MH  - Blastomeres/*metabolism/pathology
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Meiosis/genetics
MH  - Spermatozoa/*metabolism/pathology
MH  - Translocation, Genetic
EDAT- 2012/03/13 06:00
MHDA- 2012/08/23 06:00
CRDT- 2012/03/13 06:00
PHST- 2011/10/06 00:00 [received]
PHST- 2012/02/14 00:00 [accepted]
PHST- 2012/03/13 06:00 [entrez]
PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/08/23 06:00 [medline]
AID - S1769-7212(12)00070-5 [pii]
AID - 10.1016/j.ejmg.2012.02.003 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2012 Apr;55(4):245-51. doi: 10.1016/j.ejmg.2012.02.003. Epub 
      2012 Feb 22.