Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

• Published in: Human genetics 2005-08, Vol.117 (4), p.357-365
• Main Authors: MIKHAAIL-PHILIPS, Monica M, MCGILLIVRAY, Barbara C, HAMILTON, Sara J, KO, Evelyn, CHERNOS, Judy, RADEMAKER, Alfred, MARTIN, Renée H
• Format: Article
• Language: English
• Subjects: Adult; Aneuploidy; Biological and medical sciences; Chromosome Inversion - genetics; Chromosome Segregation - genetics; Chromosomes, Human, Pair 17 - genetics; Classical genetics, quantitative genetics, hybrids; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; In Situ Hybridization, Fluorescence; Lymphocytes - cytology; Male; Middle Aged; Spermatozoa; Spermatozoa - cytology; Telomeres
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-004-1245-0

Chromosome segregation and interchromosomal effect were studied in spermatozoa from a carrier of a pericentric chromosome 17 inversion, 46,XY,inv(17)(p13.1q25.3). Sperm chromosome segregation, lymphocytes of the inversion carrier, and cells from his offspring were analysed by multicolour fluorescence in situ hybridization. The frequency of balanced sperm was 73%. An unusual segregation of recombinants was observed, viz. deletion of the p arm (14.6%) or duplication of the p arm with the presence of one q arm (8.4%), instead of the expected recombinants, viz. duplication of one arm with deletion of the other and vice versa. These unusual recombinants were explained by the position of the 17q breakpoint, which was between the q arm telomere-associated repeats and the unique q subtelomere region. The offspring of the donor were found to have a 17p deletion including the Miller-Dieker critical region, similar to the most frequent recombinant sperm class. The disomy frequency was significantly increased for chromosome 17 compared with other autosomes, suggesting that pairing and recombination of the inversion may predispose to non-disjunction. There was no significant difference between the frequencies of aneuploidy for chromosomes 13, 21, X and Y in the chromosome inversion heterozygote compared with controls. Thus, this unique pericentric inversion of chromosome 17 produces unusual recombinant products; no evidence was apparent of an interchromosomal effect in any of the tested chromosomes.