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Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect
Author(s) -
MikhaailPhilips Monica M.,
Ko Evelyn,
Chernos Judy,
Greene Calvin,
Rademaker Alfred,
Martin Renée H.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20693
Subject(s) - nondisjunction , chromosomal inversion , biology , autosome , sperm , aneuploidy , genetics , chromosome 18 , meiosis , chromosome , chromosome 21 , fluorescence in situ hybridization , heterozygote advantage , x chromosome , chromosome 9 , microbiology and biotechnology , karyotype , allele , gene
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. © 2004 Wiley‐Liss, Inc.