title: The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation.
abstract: We examined the meiotic segregation pattern of a t(1;4)(p36.2;q31.3) reciprocal translocation in two male cousins heterozygous for the translocation. The wife of subject 1 had four recognized spontaneous abortions and two carrier daughters, and the wife of subject 2 had three recognized spontaneous abortions and no live-born children. The results showed that subject 1 had an imbalance rate of 54% and subject 2 had an imbalance rate of 61% with respect to the translocation. This was not statistically different (P = 0.3174) and the 95% confidence intervals overlapped for each segregation type. The sex ratio of X- and Y-bearing sperm was not statistically different than the expected 50%. The rate of structural abnormalities was 11.3% in subject 1 and 17.8% in subject 2. Both of these values were above the range of control subjects in our lab, but only subject 2's value fell outside the 95% confidence interval for the control population.
authors.affiliation: Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh 15224.
authors.forename: A M
authors.initials: AM
authors.lastname: Estop
authors.forename: F
authors.initials: F
authors.lastname: Levinson
authors.forename: K
authors.initials: K
authors.lastname: Cieply
authors.forename: V
authors.initials: V
authors.lastname: Vankirk
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics*