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Sperm chromosome complements from two human reciprocal translocation heterozygotes

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Summary

Using the hamster oocyte/human sperm fusion technique, we studied sperm chromosome complements in two male reciprocal translocation heterozygotes, 46,XY,t(11;17)(p11.2;q12.3) and 46,XY,t(1;11) (p36.3;q13.1). For the t(11;17) carrier, 202 sperm chromosome complements were obtained, but 18 karyotypes were not included in the segregation data because of multiple breaks and rearrangements. The alternate and adjacent I types, adjacent II, and 3∶1 segregations accounted for 38.6%, 32.1%, 26.6%, and 2.7% of the sperm analyzed from the t(11;17) carrier. A total of 575 sperm chromosome complements was obtained using sperm from the t(1;11) heterozygote, and 27 karyotypes were excluded from the segregation data because of multiple breaks and rearrangements. For the t(1;11) carrier, the alternate and adjacent I types, adjacent II, and 3∶1 segregations were responsible for 31.4%, 42.9%, 15.9%, and 8.0% of the analyzed sperm chromosome complements. Chromosomal abnormalities unrelated to the translocation, particularly the conservative estimate of aneuploidy frequency, were within the range observed in normal men. Hence, there was no evidence for an interchromosomal effect causing meiotic nondisjunction, despite the large sample sizes studied.

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Authors and Affiliations

  1. Division of Medical Genetics, Department of Paediatrics, University of Calgary, and Medical Genetics Clinic, Alberta Children's Hospital, 1820 Richmond Road, S. W., T2T 5C7, Alberta, Calgary, Canada

    Elizabeth L. Spriggs & Renee H. Martin

  2. Regional Cytogenetics Laboratory, East Birmingham Hospital, Birmingham, UK

    Maj Hulten

Authors
  1. Elizabeth L. Spriggs
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  2. Renee H. Martin
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  3. Maj Hulten
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Spriggs, E.L., Martin, R.H. & Hulten, M. Sperm chromosome complements from two human reciprocal translocation heterozygotes. Hum Genet 88, 447–452 (1992). https://doi.org/10.1007/BF00215680

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  • DOI: https://doi.org/10.1007/BF00215680

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