Association of pericentric inv(12)(p11.2q14) with infertility and recurrent miscarriages: Case report and literature review Perisentrik inv(12)(p11.2q14)’nin infertilite ve tekrarlayan düşüklerle ilişkisi: vaka örneği ve literatür taraması

Kaya M., Karataş Ö. F.

Duzce Medical Journal, vol.21, no.2, pp.132-135, 2019 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.18678/dtfd.544991
  • Journal Name: Duzce Medical Journal
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.132-135
  • Keywords: Infertility, Inv(12)(p11.2q14), Pericentric inversion, Recurrent miscarriages
  • Istanbul University Affiliated: No


Infertility, reported in 15% of the couples who want to have children, is an important worldwide health problem. Recurrent miscarriage, observed in 15–25% of pregnancies, is another important health issue affecting millions of couples in the world. Despite many genetic factors have been associated with infertility or recurrent miscarriages especially in recent years, the genetic and epigenetic factors underlying these problems are mostly unknown. Most of the pericentric inversions do not affect phenotypes of the individuals carrying balanced rearrangements. However, the pericentric inversions may cause chromosomally unbalanced sperm/ovum during the meiotic crossover leading to infertility or recurrent miscarriages. In this case report, we report a familial pericentric inv(12)(p11.2q14) in eight individuals with infertility or recurrent miscarriages in three different families.