PMID- 15108200
OWN - NLM
STAT- MEDLINE
DCOM- 20050204
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 127A
IP  - 2
DP  - 2004 Jun 1
TI  - Analysis of chromosome segregation in sperm from a chromosome 2 inversion 
      heterozygote and assessment of an interchromosomal effect.
PG  - 139-43
AB  - Using fluorescence in situ hybridization (FISH) analysis, the chromosome 
      segregation of a pericentric inversion of chromosome 2 was studied in 
      spermatozoa. An interchromosomal effect (ICE) was also determined for chromosomes 
      13, 21, X, and Y. This chromosome inversion included more than 2/3 of the total 
      length of the chromosome and the breaks points were in G-light bands. The 
      frequency of non-recombinant sperm was 55.9%, and that of recombinant sperm was 
      34.5% (with a 1:1 ratio of duplication of the p arm and deletion of the q arm and 
      vice versa). There was a significantly increased frequency of disomy for 
      chromosome 2 (0.6%) compared to the other autosomes, suggesting that pairing and 
      recombination of the inversion may predispose to nondisjunction. There was no 
      significant difference between the frequencies of aneuploidy for chromosomes 13, 
      21, X, and Y for the chromosome inversion heterozygote compared to control 
      donors. Thus we did not find evidence for an ICE.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Mikhaail-Philips, Monica M
AU  - Mikhaail-Philips MM
AD  - Department of Genetics, Alberta Children Hospital, Calgary, Alberta, Canada.
FAU - Ko, Evelyn
AU  - Ko E
FAU - Chernos, Judy
AU  - Chernos J
FAU - Greene, Calvin
AU  - Greene C
FAU - Rademaker, Alfred
AU  - Rademaker A
FAU - Martin, Renee H
AU  - Martin RH
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Aneuploidy
MH  - *Chromosome Inversion
MH  - Chromosome Segregation/genetics/*physiology
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Chromosomes, Human, X/genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Cytogenetic Analysis
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Spermatozoa/*physiology
EDAT- 2004/04/27 05:00
MHDA- 2005/02/05 09:00
CRDT- 2004/04/27 05:00
PHST- 2004/04/27 05:00 [pubmed]
PHST- 2005/02/05 09:00 [medline]
PHST- 2004/04/27 05:00 [entrez]
AID - 10.1002/ajmg.a.20693 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jun 1;127A(2):139-43. doi: 10.1002/ajmg.a.20693.