Skip to main content
SpringerLink
Log in

Cytogenetic analysis of 400 sperm from three translocation heterozygotes

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Sperm chromosome complements were studied in three men who carried reciprocal translocations. A total of 400 sperm were karyotyped after in vitro penetration of hamster eggs: 217 sperm from t(2;9) (q21;p22), 164 from t(4;6) (q28;p23) and 19 from t(7;14) (q21;q13). All possible 2∶2 and 3∶1 meiotic segregations were observed for t(2;9) and t(4;6); for t(7;14) only 2∶2 segregations were observed. For alternate segregations, the number of normal sperm was not significantly different from the number of sperm carrying a balanced form of the translocation in any of the translocations, as theoretically expected. The percentage of sperm with an unbalanced form of the translocation was 57% for t(2;9), 54% for t(4;6) and 47% for t(7;14). There was no evidence for an interchromosomal effect in any of the translocations since the frequencies of numerical abnormalities (unrelated to the translocation) were within the normal range of control donors. The frequencies of X- and Y-bearing sperm did not differ significantly from 50%. Results from a total of 17 reciprocal translocations studied by sperm chromosomal analysis were reviewed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Aurias A, Prieur M, Dutrillaux B, Lejeunc J (1978) Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45:259–282

    Google Scholar 

  • Balkan W, Martin RH (1983) Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet 63:345–348

    Google Scholar 

  • Boue A, Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnosis. Prenat Diagn 4:45–67

    Google Scholar 

  • Brandriff B, Gordon L, Ashworth LK, Littman V, Watchmaker G, Carrano AV (1986) Cytogenetics of human sperm: meiotic segregation in two translocation carriers. Am J Hum Genet 38:197

    Google Scholar 

  • Burns JP, Koduru PRK, Alonso ML, Chaganti RSK (1986) Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using hamster in vitro penetration system. Am J Hum Genet 38:467–478

    Google Scholar 

  • Martin RH (1983) A detailed method for obtaining preparations of human sperm chromosomes. Cytogenet Cell Genet 35:253–256

    Google Scholar 

  • Martin RH (1984) Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation. t(11∶22)(q23;q11). Clin Genet 25:357–361

    Google Scholar 

  • Martin RH (1988a) Meiotic segregation of human sperm chromosomes in translocation heterozygotes: report of a t(9;10) (q34;q11) and a review of the literature. Cytogenet Cell Genet 47:48–51

    Google Scholar 

  • Martin RH (1988b) Cytogenetic analysis of sperm from a male heterozygous for a 13∶14 Robertsonian translocation. Hum Genet 80:357–361

    Google Scholar 

  • Martin RH (1989) Invited editorial: segregation analysis of translocations by the study of human sperm chromosome complements. Am J Hum Genet 44:461–463

    Google Scholar 

  • Martin RH, Balkan W, Burns K, Rademaker AW, Linn CC, Rudd NL (1983) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309

    Google Scholar 

  • Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77:108–114

    Google Scholar 

  • Martin RH, McGillivray B, Barclay L, Hildebrand K, Ko E (1990) Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46. XYt(12;20)(q24.3;q11). Hum Reprod 5:606–609

    Google Scholar 

  • Pellestor F, Sele B, Jalbert H, Jalbert P (1989) Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers. Am J Hum Genet 44:464–473

    Google Scholar 

  • Rudak E, Jacobs PA, Yanagimachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911–913

    Google Scholar 

  • Templado C, Navarro J, Benet J, Genesca A, Mar Penez M, Egozcue J (1988) Human sperm chromosome studies in a reciprocal translocation t(2;5). Hum Genet 79:24–28

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Calgary, T2T5C7, Calgary, Alberta, Canada

    Renee H. Martin

  2. Medical Genetics Clinic, Alberta Children's Hospital, 1820 Richmond Road, S.W., T2T 5C7, Calgary, Alberta, Canada

    Renee H. Martin, Leona Barclay, Kathy Hildebrand, Evelyn Ko & S. Bea Fowlow

Authors
  1. Renee H. Martin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Leona Barclay
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kathy Hildebrand
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Evelyn Ko
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S. Bea Fowlow
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Martin, R.H., Barclay, L., Hildebrand, K. et al. Cytogenetic analysis of 400 sperm from three translocation heterozygotes. Hum Genet 86, 33–39 (1990). https://doi.org/10.1007/BF00205168

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00205168

Keywords

Search

Navigation