PMID- 18685557
OWN - NLM
STAT- MEDLINE
DCOM- 20090205
LR  - 20240320
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 17
IP  - 1
DP  - 2009 Jan
TI  - Breakpoint mapping and complete analysis of meiotic segregation patterns in three 
      men heterozygous for paracentric inversions.
PG  - 44-50
LID - 10.1038/ejhg.2008.144 [doi]
AB  - Paracentric inversions (PAIs) are structural chromosomal rearrangements generally 
      considered to be harmless. To date, only a few studies have been performed 
      concerning the meiotic segregation of these rearrangements, using either the 
      human-hamster fertilization system or fluorescence in situ hybridization (FISH) 
      with centromeric or telomeric DNA probes. To improve the assessment of imbalances 
      in PAI, we present a new strategy based on FISH assay using multiple bacterial 
      artificial chromosome probes, which allow a precise localization of chromosome 
      break points and the identification of all meiotic products in human sperm. Sperm 
      samples of three cases with PAI were investigated: an inv(5)(q13.2q33.1), an 
      inv(9)(q21.2q34.13) and an inv(14)(q23.2q32.13). The frequencies of spermatozoa 
      with inverted chromosomes were 44.7% in inv(5), 42.7% in inv(9) and 46.7% in 
      inv(14). The global incidences of unbalanced complements were 9.7, 12.6 and 3.7% 
      in inv(5), inv(9) and inv(14), respectively. This report is the first study 
      providing a detailed description of meiotic segregation patterns in human sperm 
      by using a sperm FISH approach. This study demonstrates that the detailed 
      analysis of segregation in PAI may provide important data for both genetic 
      analysis and counseling of inversion carriers.
FAU - Bhatt, Samarth
AU  - Bhatt S
AD  - CHU Montpellier, Institute for Research in Biotherapy, Hopital Saint-Eloi, 
      Montpellier, France.
FAU - Moradkhani, Kamran
AU  - Moradkhani K
FAU - Mrasek, Kristin
AU  - Mrasek K
FAU - Puechberty, Jacques
AU  - Puechberty J
FAU - Manvelyan, Marina
AU  - Manvelyan M
FAU - Hunstig, Friederike
AU  - Hunstig F
FAU - Lefort, Genevieve
AU  - Lefort G
FAU - Weise, Anja
AU  - Weise A
FAU - Lespinasse, James
AU  - Lespinasse J
FAU - Sarda, Pierre
AU  - Sarda P
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Hamamah, Samir
AU  - Hamamah S
FAU - Pellestor, Franck
AU  - Pellestor F
LA  - eng
GR  - WT_/Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080806
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Molecular Probes)
SB  - IM
MH  - Adult
MH  - Chromosome Breakage
MH  - *Chromosome Inversion
MH  - Chromosome Mapping
MH  - *Chromosome Segregation
MH  - Chromosomes, Artificial, Bacterial
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Meiosis
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Molecular Probes
MH  - Spermatozoa/*physiology
PMC - PMC2985954
EDAT- 2008/08/08 09:00
MHDA- 2009/02/06 09:00
PMCR- 2009/01/01
CRDT- 2008/08/08 09:00
PHST- 2008/08/08 09:00 [entrez]
PHST- 2008/08/08 09:00 [pubmed]
PHST- 2009/02/06 09:00 [medline]
PHST- 2009/01/01 00:00 [pmc-release]
AID - ejhg2008144 [pii]
AID - 10.1038/ejhg.2008.144 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2009 Jan;17(1):44-50. doi: 10.1038/ejhg.2008.144. Epub 2008 Aug 
      6.