Meiotic and sperm chromosome studies in a reciprocal translocation t(1;2)(q32;q36)

C. Templado, J. Navarro, R. Requena, J. Benet, F. Ballesta, J. Egozcue

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27 Citations (Scopus)

Abstract

Meiotic and sperm chromosomes were studied in a man heterozygous for a reciprocal translocation t(1;2)(q32; q36). Forty-five meiotic metaphase I cells were obtained from semen samples: 86.6% were 22,XY,IV and 13.3% had synaptic anomalies that affected all or some of the bivalents. The quadrivalents observed had a ring configuration (92.3%) or a chain configuration (7.7%). A total of 105 sperm chromosome complements were analyzed: 41% resulted from an alternate segregation, and the percentage of unbalanced sperm was 59%; most of them (71%) resulted from an adjacent 1 segregation. The frequency of anomalies unrelated to the translocation (5.7% numerical and 14.1% structural anomalies) were within the normal range for control donors. There was a good correspondence between the percentage of cells with a ring IV (92.3%) and the proportion of 2:2 segregations (88.6%) and between the percentage of chain IV (7.7%) and the incidence of 3:1 segregations (11.4%). © 1990 Springer-Verlag.
Original languageEnglish
Pages (from-to)159-162
JournalHuman Genetics
Volume84
DOIs
Publication statusPublished - 1 Jan 1990

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