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Am J Med Genet. 1991 Oct 01;41(1):32-4. doi: 10.1002/ajmg.1320410110.

Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.

American journal of medical genetics

M Masuno, Y Cholsong, T Kuwahara, N Shimizu, S Yamaguchi, I Kawabata, T Tamaya, Y Morishita, N Yoshimi, T Orii

Affiliations

  1. Department of Pediatrics, Gifu University School of Medicine, Japan.

PMID: 1951460 DOI: 10.1002/ajmg.1320410110

Abstract

We describe a 20-week-gestation male fetus with partial dup(5p) and proximal dup(13q), 47,XY,t(5;13)(p15;q21), + der(13)t(5;13)(p15;q21) mat. This finding is attributable to second meiotic nondisjunction of the rearranged chromosome in a maternal balanced reciprocal translocation. To the best of our knowledge, there have been only 3 previous reports of a similar error in the segregation of the rearranged chromosomes. For the first time evidence has been given that this unusual segregation is due to maternal second meiotic nondisjunction, using QFQ banding heteromorphisms. Second meiotic malsegregation should be taken into account in the consideration of reproductive problems in carriers of balanced translocations.

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