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Hum Genet. 1992 Jun;89(4):425-9. doi: 10.1007/BF00194315.

The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation.

Human genetics

A M Estop, F Levinson, K Cieply, V Vankirk


  1. Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh 15224.

PMID: 1618491 DOI: 10.1007/BF00194315


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.

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