title: The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis.
abstract: The meiotic segregation of chromosomes 10 and 12 was analyzed in a male heterozygous for a reciprocal translocation, t(10;12)(q26.1;p13.3), using fluorescence in situ hybridization (FISH). Centromeric specific probes that detect alpha satellite sequences of chromosomes 10 and 12 were used. A total of 10,049 spermatozoa were analyzed. The frequencies of alternate/adjacent 1, adjacent 2, and 3:1 modes of segregation were: 84.25, 10.95%, and 4.42%, respectively. Diploidy was present in 0.23% of spermatozoa. Similar segregation patterns have been reported for this donor by direct karyotyping of sperm cells. FISH is a valuable technique for studying meiotic segregation patterns in that larger samples can be studied in a relatively short time. However, it does not provide information on the full chromosome complement of the spermatozoon.
authors.affiliation: Center for Medical Genetics, Allegheny General Hospital, Pittsburgh, PA 15212, USA. estop@asri.edu
authors.forename: A M
authors.initials: AM
authors.lastname: Estop
authors.forename: K M
authors.initials: KM
authors.lastname: Cieply
authors.forename: C E
authors.initials: CE
authors.lastname: Aston
mesh_terms: D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic