DIRECT SEGREGATION ANALYSIS OF RECIPROCAL TRANSLOCATIONS - A STUDY OF 283 SPERM KARYOTYPES FROM 4 CARRIERS
- 1 April 1989
- journal article
- research article
- Vol. 44 (4) , 464-473
Abstract
Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations.sbd.t(4;17);t(5;13),t(6;7), and t(9;18).sbd.was studied. Frequencies of numerical abnormalities unrelated to the translocations range frmo 8.3% to 13.3%, and the incidence of imbalances ranges from 23.0% to 66.0%. Results are pooled with data from the nine other reciprocal translocations reported elsewhere, and the combined data demonstrate that male meiotic segregation is not random: whatever the type of translocation may be, the distribution of imbalances in sperm is constant, with approximately 72.0% adjacent 1, 18.5% adjacent 2, and 9.5% 3:1 segregations. The same prevalance of adjacent 1 segregations as that reported at term for translocations of paternal origin is observed. There is a strong postzygotic elimination process; for a given translocation it affects selectively the maximum-imbalance zygotes so that imbalanced segregations observed at term are always predetermined.This publication has 25 references indexed in Scilit:
- Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centresPrenatal Diagnosis, 1986
- A computer model for the study of segregation in reciprocal translocation carriers: Application to 20 new casesAmerican Journal of Medical Genetics, 1986
- Chromosomes of human sperm: Variability among normal individualsHuman Genetics, 1985
- A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnosesPrenatal Diagnosis, 1984
- Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocationsHuman Genetics, 1983
- Chromosome maps of cell lines with specific monosomic or trisomic portions of the genome in the NIGMS Human Genetic Mutant Cell RepositoryCytogenetic and Genome Research, 1983
- The contribution of chromosome aberrations to the precision of human gene mappingCytogenetic and Genome Research, 1982
- Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.Journal of Medical Genetics, 1979
- Structural differences in reciprocal translocationsHuman Genetics, 1979
- Direct analysis of the chromosome constitution of human spermatozoaNature, 1978