Skip to main content
Log in

Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature

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

Summary

Meiotic segregation was studied in a male heterozygous for a 13;15 Robertsonian translocation using in vitro sperm penetration of hamster eggs. Sixty-seven sperm chromosome complements were obtained and R-banded. Alternate segregation produced equal numbers of normal (31) and balanced (29) gametes, as was theoretically expected. Incidence of unbalanced complements was 10.4%, and the frequency of abnormalities unrelated to the translocation was 7.4%. This study confirms the predominance of alternate meiotic segregation in Robertsonian translocation carriers. Four sperm studies of Robertsonian translocation have been previously reported. A review of the combined results points out the low incidence of imbalance in the sperm of Robertsonian translocation carrier and the lack of evidence for an interchromosomal effect.

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

Access this article

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

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Balkan W, Martin RH (1983) Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet 16:169–172

    Google Scholar 

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

    Google Scholar 

  • Bruere A, Scott IS, Henderson LM (1981) Aneuploid spermatocyte frequency in domestic sheep heterozygous for three Robertsonian translocations. J Reprod Fertil 63:61–66

    Google Scholar 

  • Burns JP, Koduru PRK, Alonso ML, Chaganti RSK (1986) Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system. Am J Hum Genet 38:954–964

    Google Scholar 

  • Cohen MM (1971) The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography. Ann Génét (Paris) 14:87–96

    Google Scholar 

  • Couzin DA, Watt JL, Stephen GS (1987) Structural rearrangements in the parents of children with primary trisomy 21. J Med Genet 24:280–282

    Google Scholar 

  • Dutrillaux B, Lejeune J (1970) Etude de la descendance des individus porteuns d'une translocation t(Dq;Dq). Ann Génét (Paris) 13:11–18

    Google Scholar 

  • Evans JA, Canning N, Hunter AGW, Martsolf JT, Ray M, Thompson DR, Hamerton JL (1978) A cytogenetic survey of 14,069 newborn infants. III. An analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 20:96–123

    Google Scholar 

  • Guichaoua MR, Devictor M, Hartung M, Luciani JM, Stahl M (1986) Random acrocentric bivalent associations in human pachytene spermatocytes. Molecular implications in the occurrence of Robertsonian translocations. Cytogenet Cell Genet 42:191–197

    Google Scholar 

  • Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14,069 newborn infants. Incidence of chromosome abnormalities. Clin Genet 8:223–243

    Google Scholar 

  • Harris DJ, Hankins L, Begleiter ML (1979) Reproductive risk of t(13q14q) carriers: case report and review. Am J Med Genet 3:175–181

    Google Scholar 

  • Jacobs PA (1981) Mutation rates of structural chromosome rearangements in man. Am J Hum Genet 33:44–54

    Google Scholar 

  • Larsen RE, Dias E, Flores G, Selden JR (1979) Breeding studies reveal segregation of a canine Robertsonian translocation along Mendelian proportions. Cytogenet Cell Genet 24:95–101

    Google Scholar 

  • Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982) Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up of 40 cases. Am J Hum Genet 34:278–285

    Google Scholar 

  • Lejeune J (1965) Les conséquences méiotiques des remaniements chromosomiques. Ann Génét (Paris) 8:9–10

    Google Scholar 

  • Lindenbaum RJ, Hulten M, McDermott A, Seabright M (1985) The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect. J Med Genet 22:24–28

    Google Scholar 

  • Logue DN, Harvey MJA (1978) Meiosis and spermatogenesis in bulls heterozygous for a presumptive 1/29 Robertsonian translocation. J Reprod Fertil 54:177–181

    Google Scholar 

  • Luciani JM, Guichaoua NR, Mattei A, Norazzani NR (1984) Pachytene analysis of a man with a 13q;14q translocation and infertility. Cytogenet Cell Genet 38:14–22

    Google Scholar 

  • Martin RH (1985) Chromosomal abnormalities in human sperm. In: Dellarco VL, Voytek P, Hollaender A (eds) Aneuploidy: etiology and mechanisms. Plenum Press, New York, pp 91–102

    Google Scholar 

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

    Google Scholar 

  • Mattei MG, Soviah N, Mattei JF (1984) Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum Genet 66:313–334

    Google Scholar 

  • Mikkelsen M (1971) Down's syndrome. Current stage of cytogenetic research. Humangenetik 12:1–28

    Google Scholar 

  • Mori MA, Huertras H, Pinel I, Giralt P, Martinez-Frias ML (1985) Trisomy 13 in the child of two carriers of a 13/15 translocation. Am J Med Genet 20:17–20

    Google Scholar 

  • Neu RL, Gardner LI, Williams ML, Barlow MJ (1973) Three generations and six family members with a t(13q15q) chromosome. J Med Genet 10:94–96

    Google Scholar 

  • Pellestor F, Séle B (1989) Etude cytogénétique du sperme humain. Med Sci 5:244–251

    Google Scholar 

  • Pellestor F, Séle B, Jalbert H (1987) Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76:116–120

    Google Scholar 

  • Pellestor F, Séle 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 

  • Réthoré NO, Couturier J, Carpentier S, Ferrand J, Lejeune J (1975) Trisomie 14 en mosaique chez une enfant multimalformée. Ann Génét (Paris) 18:71–74

    Google Scholar 

  • Rosenmann A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B (1985) Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 39:19–29

    Google Scholar 

  • Schwartz S, Palmer CG, Yu PL, Boughman JA, Cohen MM (1986) Analysis of translocations observed in three different populations. II. Robertsonian translocations. Cytogenet Cell Genet 42:53–56

    Google Scholar 

  • Séle B, Pellestor F, Estrade C, Ostorero C, Warenbourg, Gelas M, Jalbert H, Jalbert P (1985) Mise en évidence des chromoomes de spermatozoides humains dans un système hétérospécifique: difficultés techniques. Pathol Biol (Paris) 9:875–880

    Google Scholar 

  • Stahl A, Luciani JM, Hartung M, Devictor M, Berge-Lefranc JL, Guichaoua MR (1983) Structural basis for Robertsonian translocation in man: association of ribosomal genes in the nucleolar fibrillar center in meiotic spermatocytes and oocytes. Proc Natl Acad Sci USA 80:5946–5950

    Google Scholar 

  • Syme RM, Martin RH (1988) Meiotic segregation of sperm chromosomes in a man heterozygous for a 21;22 Robertsonian translocation. Am J Hum Genet 43 [Suppl]:A124

    Google Scholar 

  • Therman E (1980) Human chromosomes: structure, behaviour, effects, 2nd edn. Springer, New York Berlin Heidelberg

    Google Scholar 

  • Therman E, Susman B, Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet 53:49–65

    Google Scholar 

  • Vidal P, Templado C, Navarro J, Marina S, Egozcue S (1981) Meiotic and synaptonemal complex studies in a 14–21 translocation carrier. Int J Androl 5:21–26

    Google Scholar 

  • Wu RH, Hasen J, Warburton D (1982) Primary hypogonadism and 13/15 chromosome translocation in Prader-Labhart-Willi syndrome. Horm Res 15:148–158

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pellestor, F. Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature. Hum Genet 85, 49–54 (1990). https://doi.org/10.1007/BF00276325

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00276325

Keywords

Navigation