PMID- 18798330
OWN - NLM
STAT- MEDLINE
DCOM- 20081112
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 20
DP  - 2008 Oct 15
TI  - Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated 
      with secondary infertility.
PG  - 2651-6
LID - 10.1002/ajmg.a.32499 [doi]
AB  - Structural chromosomal abnormalities can be associated with infertility through 
      meiosis impairment or the formation of unbalanced gametes. Among these structural 
      abnormalities, complex chromosomal rearrangements (CCR) relate to situations with 
      more than two breakpoints and/or more than two chromosomes involved. Mosaic 
      balanced chromosomal rearrangements are very rare events usually ascertained 
      through infertility, recurrent miscarriages or liveborn abnormal children. 
      Mosaicism for complex chromosome rearrangements (CCRM) has never been described 
      to date. Here we report on two patients with secondary infertility whose 
      karyotype revealed mosaic partially cryptic CCRs, revealed by fluorescence in 
      situ hybridization (FISH). To our knowledge, this is the first report of 
      mosaicism for complex chromosomal rearrangements (CCRM). We discuss the 
      importance of molecular cytogenetic characterization of structural rearrangements 
      to assist in genetic counseling related to the possible use of assisted 
      reproductive technology.
CI  - 2008 Wiley-Liss, Inc.
FAU - Lebbar, Aziza
AU  - Lebbar A
AD  - APHP, Hopital Cochin-Laboratoire de Cytogenetique, Paris, France. 
      aziza.lebbar@cch.aphp.fr
FAU - Callier, Patrick
AU  - Callier P
FAU - Baverel, Francoise
AU  - Baverel F
FAU - Marle, Nathalie
AU  - Marle N
FAU - Patrat, Catherine
AU  - Patrat C
FAU - Le Tessier, Dominique
AU  - Le Tessier D
FAU - Mugneret, Francine
AU  - Mugneret F
FAU - Dupont, Jean-Michel
AU  - Dupont JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Inversion/*genetics
MH  - Chromosome Painting
MH  - Cytogenetic Analysis
MH  - Gene Rearrangement/*genetics
MH  - Genetic Counseling
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mosaicism
MH  - Translocation, Genetic/*genetics
EDAT- 2008/09/18 09:00
MHDA- 2008/11/13 09:00
CRDT- 2008/09/18 09:00
PHST- 2008/09/18 09:00 [pubmed]
PHST- 2008/11/13 09:00 [medline]
PHST- 2008/09/18 09:00 [entrez]
AID - 10.1002/ajmg.a.32499 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Oct 15;146A(20):2651-6. doi: 10.1002/ajmg.a.32499.