Unusual segregation products in sperm from a pericentric inversion 17 heterozygote.

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