Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers?

  • 69 Accesses

  • 22 Citations


Chromosome studies were performed on a series of 177 couples referred for genetic counseling following two or more spontaneous abortions to clarify the relationship between karyotype and fertility in males and females and to provide risk figures for genetic counseling. The results of these investigations, when combined with those in the literature, suggest that 2–3% of individuals in couples experiencing early fetal losses carry a balanced translocation and that this is not markedly influenced by the number of losses greater than two. Females are more likely than males to be the carrier, reflecting the fact that structural abnormalities of the chromosomes that are compatible with fertility in the female may be associated with sterility in the male. Karyotyping should be performed on both members of a couple following two spontaneous abortions and the products of conception should be studied whenever possible to begin to determine the biological basis of the association between parental rearrangement and fetal loss.

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


  1. Antich J, Clusellas N, Twose A, Godo RM (1980) Chromosomal abnormalities in parents in cases of reproductive failure. Clin Genet 17:52

  2. Aymé S, Lippman-Hand A (1982) Maternal-age effect in aneuploidy: does altered embryonic selection play a role? Am J Hum Genet 34: 558–565

  3. Ballesta F, Fernandez E, Mila M (1980) Infertility and chromosomal variations. Clin Genet 17:54

  4. Bhasin MK, Foerster W, Fuhrmann W (1973) A cytogenetic study of recurrent abortion. Humangenetik 18:139–148

  5. Blumberg B, Shulkin JD, Rotter JI, Mohandas T, Kaback MM (1980) Habitual abortion and heterochromatic chromosomal polymorphisms. Am J Hum Genet 32:63A

  6. Bortotto L, Baccichetti C, Lenzini E, Tenconi R, Delendi N, Caufin D (1980) Cytogenetic survey of couples with habitual abortion and other reproductive wastage. Clin Genet 17:56

  7. Boué J, Boué A, Lazar P (1975) Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratol 12:11–26

  8. Bühler EM (1980) Two women with history of fetal wastage and balanced chromosomal translocations. Clin Genet 17:58

  9. Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M (1975) Cytogenetics and infertility in man. 1. Karyotype and seminal analysis. Ann Hum Genet 39:231–254

  10. Davis JR, Weinstein L, Veomett IC, Shenker L, Giles HR, Hauck L (1982) Balanced translocation karyotypes in patients with repetitive abortion. Am J Obstet Gynecol 144:229–233

  11. Genest P (1979) Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clin Genet 16:387–389

  12. Geraedts JPM, Klasen EC (1980) Chromosome studies and α1-antitrypsin phenotypes in recurrent abortions. Clin Genet 17:68

  13. Hanley JA, Lippman-Hand A (1983) If nothing goes wrong is everything all right? Interpreting zero numerators. JAMA 249:1743–1745

  14. Hecht F (1982) Unexpected encounters in cytogenetics: repeated abortions and parental sex chromosome mosaicism may indicate risk of nondisjunction. Am J Hum Genet 34:514–516

  15. Hemming L, Burns C (1979) Heterochromatic polymorphism in spontaneous abortions. J Med Genet 16:358–362

  16. Heritage DW, English SC, Young RB, Chen ATL (1978) Cytogenetics of recurrent abortions. Fertil Steril 29:414–417

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

  18. Jacobs PA, Frackiewicz A, Law P, Hilditch CJ, Morton NE (1975) The effect of structural aberration of the chromosomes in reproductive fitness in man. II. Results. Clin Genet 8:169–178

  19. Kajii T, Ferrier A (1978) Cytogenetics of aborters and abortuses. Am J Obstet Gynecol 131:33–38

  20. Kardon NB, Davis JG, Berger AL, Broekman A (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum Genet 53:161–164

  21. Kim HJ, Hsu LYF, Paciuc S, Cristian S, Quintana A, Hirschhorn K (1975) Cytogenetics of fetal wastage. N Engl J Med 293:844–847

  22. Lippman-Hand A (1980) Genetic counseling and human reproductive loss. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press, New York, pp 299–314

  23. Matton M, Verschraegen-Spae MR, de Bie S, Van Den Wijngaert J (1980) Incidence of T carriers amongst couples with repetitive abortion, after exclusion of any other etiology. Clin Genet 17:78

  24. Mennuti MT, Jingeleski S, Schwarz RH, Mellman WJ (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet Gynecol 52:308–313

  25. Michels VV, Medrano C, Venne VL, Riccardi VM (1982) Chromosome translocations in couples with multiple spontaneous abortions. Am J Hum Genet 34:507–513

  26. Mittwoch U, Mahadevaiah S, Olive MB (1981) Retardation of ovarian growth in male-sterile mice carrying an autosomal translocation. J Med Genet 18:414–417

  27. Neu RL, Entes K, Bannerman RM (1979) Chromosome analysis in cases with repeated spontaneous abortions. Obstet Gynecol 53:373–375

  28. Nordenson I (1981) Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage. Clin Genet 19: 168–173

  29. Reinisch LC, Silvey KL, Dumars KW (1981) Sex chromosome mosaicism in couples with repeated fetal loss. Am J Hum Genet 33:117A

  30. Sachs ES (1980) Fertility of translocation carriers. Clin Genet 17:83

  31. Sant-Cassia LJ, Cooke P (1981) Chromosomal analysis of couples with repeated spontaneous abortions. Br J Obstet Gynaecol 88:52–58

  32. Schmid W (1980) Cytogenetic results in 96 couples with repeated abortions. Clin Genet 17:85

  33. Schmidt R, Nitowsky HM, Dar H (1976) Cytogenetic studies in reproductive loss. JAMA 236:369–373

  34. Shinohara T, Miyata H, Amenomori Y, Kimura H, Nizue G, Kobayashi T (1980) Cytogenetic study in couples with repeated spontaneous abortions. Jpn J Hum Genet 25:116

  35. Simpson JL, Elias S, Martin AO (1981) Parental chromosomal rearrangements associated with repetitive spontaneous abortions. Fertil Steril 36:584–590

  36. Singh DN, Hara S, Foster HW, Grimes EM (1980) Reproductive performance in women with sex chromosome mosaicism. Obstet Gynecol 55:608–611

  37. Spina F, Lieber E, Shah P, Hack M, Heimler A (1981) Sex chromosomal mosaicism 45,X/46,XX/47,XXX in females with increased fetal wastage. Am J Hum Genet 33:122A

  38. Stenchever MA, Parks KJ, Daines TL, Allen MA, Stenchever MR (1977) Cytogenetics of habitual abortion and other reproductive wastage. Am J Obstet Gynecol 127:143–150

  39. Stoll C (1981) Cytogenetic findings in 122 couples with recurrent abortions. Hum Genet 57:101–103

  40. Tavares MP, Gabarron J (1981) Cytogenetical study of 108 couples reporting for two or more abortions. In: Proceedings of the 6th International Congress of Human Genetics. Jerusalem, Israel, September 13–18, p 165

  41. Tejada I, Soler A, Salami C, Cararach J, Fortuny A (1980) Chromosomal polymorphic variants in couples with recurrent spontaneous abortions. Clin Genet 17:90

  42. Tho PT, Byrd JR, McDonough PG (1979) Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion. Fertil Steril 32:389–395

  43. Tsenghi C, Metaxotou C, Mavrou A, Benetou M, Matsaniotis N (1981) Parental translocations and foetal loss. In: Proceedings of the 6th International Congress of Human Genetics. Jerusalem, Israel, September 13–18, p 164

  44. Turleau C, Chavin-Colin F, de Grouchy J (1979) Cytogenetic investigation in 413 couples with spontaneous abortions. Eur J Obstet Gynecol Rep Biol 9:65–74

  45. Warburton D, Fraser FC (1964) Spontaneous abortion risks in man: data from reproductive histories collected in a medical genetics unit. Am J Hum Genet 16:1–25

  46. Warburton D, Grady V, Jagiello G (1981) The relationship of parental chromosome anomalies to fetal karyotype in spontaneous abortions. In: Bloom AD, James LS (eds) The fetus and the newborn. Birth Defects 17:72–73

  47. Ward BE, Henry GP, Robinson A (1980) Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Am J Hum Genet 32:549–554

  48. Osztovics MK, Toth SP, Wessely JA (1982) Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann Génét 25:232–236

Download references

Author information

Correspondence to A. Lippman-Hand.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Lippman-Hand, A., Vekemans, M. Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers?. Hum Genet 63, 252–257 (1983). https://doi.org/10.1007/BF00284659

Download citation


  • Internal Medicine
  • Metabolic Disease
  • Genetic Counseling
  • Spontaneous Abortion
  • Structural Abnormality