Incidence and spectrum of chromosomal abnormalities detected in married couples with early losses of pregnancy

М. П. Веропотвелян, Л. Г. Шаповаленко, О. С. Саваровська

Abstract


The aim of the study was to establish the incidence and spectrum of chromosomal abnormalities (CA) in married couples (MC) with sporadic and habitual early pregnancy losses (EPL) inhabiting south-east and central regions of Ukraine.

Materials and methods: A cytogenetic study of 1869 women, 1788 men, and 1781 married couples (a total of 3657 individuals) with EPL was performed separately.

Results: In 344 cases (9.4%), the patients’ karyotype contained various types of chromosomal rearrangements. Reciprocal translocations were found in 153 cases (48.3% of the total number of CA detected in women and men; in the case of couples with EPL the frequency of translocations was 4.1%), while in women – 84 (44.4% of all CA) cases, in men – 69 (44.5% of all CA), and in married couples – 6 (28.6%).

Robertson’s translocations were found in 13 cases (9 in women and 4 in men), which amounted to 3.8% of all CA; their frequency in couples with EPL was 0.35%.

Pericentric inversions were found in 159 cases (46.2% of the total number of CA), in couples with EPL their frequency made 4.3%, while in women – 82 (43.4% of all CA) cases and in men – 77 (49.7% of all CA).

Pericentric inversion of chromosome 9 was detected in 65 cases, which is 40.89% of the total number of pericentric inversions and 18.89% of the total number of CA. Paracentric inversions in the karyotyped families with EPL are not detected by our study.

Five cases with a mosaic karyotype of 45, Х/46, ХХ (1.5% of all CA), 4 cases with an isochromosome – 45,Х, i(Xq), 2 cases with a mosaic karyotype of polysomy in X (47, XXX / 46, XX), 3 cases of dysomia X – Klinefelter syndrome, 3 deletions of the terminal portion of short arm 46, X, del(X) (p21→pter).

Conclusion: The frequency of CA in women with EPL was 8.5%, in men – 6.4%, and totally in all karyotyped parents – 7.5%, which does not differ from the incidence of CA in couples who have miscarried in other populations.


Keywords


early pregnancy losses; miscarriage; spontaneous abortions; missed miscarriage; married couples; chromosomal abnormalities

References


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Hassold, T., Chen, N., Funkhouser, J., et. al. “A cytogenetic study of 1000 spontaneous abortions.” Annals of Human Genetics 44.2 (1980): 151–64.

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Simpson, J.L., Elias, S., Martin, A.O. “Parental chromosomal rearrangements associated with repetitive spontaneous abortions.” Fertil Steril 36 (1981): 584–90.

Jacobs, P.A., Melville, M., Ratcliffe, S.A. “A cytogenetic survey of 11,680 newborn infants.” Ann Hum Genet 37 (1974): 359–76.

Nielsen, J., Sillesen, I. “Incidence of chromosome aberrations among 11,148 newborn children.” Hum Genet 30.1 (1975): 1–12.

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Subrt, I., Kozák, J., Hníková, O. “Microdensitometric identification of the pericentric inversion of chromosome No.2 and of duplication of the short arm of chromosome No.7 in a reexamined case.” Hum Hered 23.4 (1973): 331–7.

Hsu, L.Y.F., Benn, P.A., Tannenbaum, H.L., et al. “Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: A large prenatal study.” Am J Med Genet 26 (1987): 95–101.

Boué, J., Taillemite, J.L., Hazael-Massieux, P., et al. “Association of pericentric inversion of chromosome and reproductive failure in ten unrelated families.” Humangenetik 30 (1975): 217–24.

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Metaxotou, C., Kalpini-Mavrou, A., Panagou, M., Tsenghi, C. “Polymorphism of chromosome 9 in 600 Greek subjects.” Am J Hum Genet 30 (1978): 85–9.

Sutherland, G.R., Gardiner, A.J., Carter, R.F. “Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.” Clin Genet 10.1 (1976): 54–9.

Jones, K.W., Corneo, G. “Location of satellite and homogeneous DNA sequences on human chromosomes.” Nat New Biol 233.43 (1971): 268–71.

Bühler, E.M., Tsuchimoto, T., Jurik, L.P., Stalder, G.R. “Satellite DNA III and alkaline Geimsa staining.” Humangenetik 26.4 (1975): 329–33.

Corneo, G., Ginelli, E., Polli, E. “Isolation of the complementary strands of a human satellite DNA.” J Mol Biol 33.1 (1968): 331–5.

Miklos, G.L., John, B. “Heterochromatin and satellite DNA in man: properties and prospects.” Am J Hum Genet 31.3 (1979): 264–80.

Patil, S.R., Lubs, H.A. “A possible association of long Y chromosomes and fetal loss.” Hum Genet 35.2 (1977): 233–5.

Genest, P. “Chromosome variants and abnormalities in 51 married couples with repeated spontaneous abortions.” Clin Genet 16.6 (1979): 387–9.

Nielsen, J. “Large Y chromosome (Yq+) and increased risk of abortion.” Clin Genet 13.5 (1978): 415–6.

Ghosh, P.K., Singh, I.P. “Morphological variability of the human chromosomes in two Indian populations – Rajputs and Punjabis.” Humangenetik 29.1 (1975): 67–78.


GOST Style Citations


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31. Simpson, J.L., Elias, S., Martin, A.O. “Parental chromosomal rearrangements associated with repetitive spontaneous abortions.” Fertil Steril 36 (1981): 584–90.

32. Jacobs, P.A., Melville, M., Ratcliffe, S.A. “A cytogenetic survey of 11,680 newborn infants.” Ann Hum Genet 37 (1974): 359–76.

33. Nielsen, J., Sillesen, I. “Incidence of chromosome aberrations among 11,148 newborn children.” Hum Genet 30.1 (1975): 1–12.

34. Djalali, M., Steinbach, P., Bullerdiek, J., et al. “The significance of pericentric inversions of chromosome 2.” Hum Genet 72.1 (1986): 32–6.

35. Subrt, I., Kozák, J., Hníková, O. “Microdensitometric identification of the pericentric inversion of chromosome No.2 and of duplication of the short arm of chromosome No.7 in a reexamined case.” Hum Hered 23.4 (1973): 331–7.

36. Hsu, L.Y.F., Benn, P.A., Tannenbaum, H.L., et al. “Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: A large prenatal study.” Am J Med Genet 26 (1987): 95–101.

37. Boué, J., Taillemite, J.L., Hazael-Massieux, P., et al. “Association of pericentric inversion of chromosome and reproductive failure in ten unrelated families.” Humangenetik 30 (1975): 217–24.

38. Madan, K., Bobrow, M. “Structural variation in chromosome No. 9.” Annals Genet 17 (1974): 81–6.

39. Metaxotou, C., Kalpini-Mavrou, A., Panagou, M., Tsenghi, C. “Polymorphism of chromosome 9 in 600 Greek subjects.” Am J Hum Genet 30 (1978): 85–9.

40. Sutherland, G.R., Gardiner, A.J., Carter, R.F. “Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.” Clin Genet 10.1 (1976): 54–9.

41. Jones, K.W., Corneo, G. “Location of satellite and homogeneous DNA sequences on human chromosomes.” Nat New Biol 233.43 (1971): 268–71.

42. Bühler, E.M., Tsuchimoto, T., Jurik, L.P., Stalder, G.R. “Satellite DNA III and alkaline Geimsa staining.” Humangenetik 26.4 (1975): 329–33.

43. Corneo, G., Ginelli, E., Polli, E. “Isolation of the complementary strands of a human satellite DNA.” J Mol Biol 33.1 (1968): 331–5.

44. Miklos, G.L., John, B. “Heterochromatin and satellite DNA in man: properties and prospects.” Am J Hum Genet 31.3 (1979): 264–80.

45. Patil, S.R., Lubs, H.A. “A possible association of long Y chromosomes and fetal loss.” Hum Genet 35.2 (1977): 233–5.

46. Genest, P. “Chromosome variants and abnormalities in 51 married couples with repeated spontaneous abortions.” Clin Genet 16.6 (1979): 387–9.

47. Nielsen, J. “Large Y chromosome (Yq+) and increased risk of abortion.” Clin Genet 13.5 (1978): 415–6.

48. Ghosh, P.K., Singh, I.P. “Morphological variability of the human chromosomes in two Indian populations – Rajputs and Punjabis.” Humangenetik 29.1 (1975): 67–78.





DOI: https://doi.org/10.18370/2309-4117.2017.35.54-60

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