Are heterochromatin polymorphisms associated with recurrent miscarriage?

J Obstet Gynaecol Res. 2010 Aug;36(4):774-6. doi: 10.1111/j.1447-0756.2010.01207.x.


Aim: Recurrent miscarriage is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of chromosomal abnormalities and the frequency of a particular type of aberration in couples of Turkish origin with recurrent miscarriages compared with patients without miscarriages.

Methods: A total of 336 patients with recurrent miscarriages and 427 patients without miscarriages were analyzed.

Results: In the recurrent miscarriage group, a structural chromosomal abnormality was found in four patients (1%). Twelve patients had mosaic karyotype (3%) and the total rate of chromosomal abnormalities was 4% in this group. The karyotypes were composed of polymorphisms in 8% of patients with recurrent miscarriages compared with 4% in the control group (P < 0.05).

Conclusion: The overall high incidence of chromosome polymorphisms in patients with recurrent miscarriages compared to the normal population needs to be confirmed with additional investigations including larger populations in order to delineate the role of 'harmless' chromosomal aberrations in the etiology of recurrent spontaneous abortions.

MeSH terms

  • Abortion, Habitual / genetics*
  • Female
  • Heterochromatin / genetics*
  • Humans
  • Karyotyping
  • Polymorphism, Genetic*
  • Pregnancy


  • Heterochromatin