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, cilt.21, sa.2, ss.132-135, 2019 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.18678/dtfd.544991
  • Dergi Adı: Duzce Medical Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.132-135
  • Anahtar Kelimeler: Infertility, Inv(12)(p11.2q14), Pericentric inversion, Recurrent miscarriages
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.