Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması

Çocuk sahibi olmak isteyen çiftlerin %15'inde görülen infertilite, tüm dünyada önemli bir sağlık sorunudur. Gebeliklerin %15-25'inde gözlenen tekrarlayan düşükler, dünya genelinde milyonlarca çifti etkileyen bir diğer önemli sorundur. Özellikle son yıllarda infertilite ya da tekrarlayan düşüklüklerle pek çok genetik faktör ilişkilendirilmiş olsa da, bu sorunların altında yatan genetik ve epigenetik faktörlerin çok büyük kısmı henüz bilinmemektedir. Perisentrik inversiyonların çoğu, taşıyıcı bireylerin fenotipini etkilemez. Bununla birlikte mayoz bölünmenin krosing over aşamasında hatalara neden olabilen perisentrik inversiyonlar infertiliteye veya tekrarlayan düşüklere yol açabilir. Bu olgu sunumu çalışmasında, üç farklı aileden sekiz bireyde tespit ettiğimiz pericentric inv(12)(p11.2q14)’ün infertilite ve tekrarlayan düşüklerle ilişkisi üzerinde durulmuştur.

Anahtar Kelimeler:

İnfertilite, tekrarlayan düşükler, perisentrik inversiyon, inv(12)(p11.2q14)

Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review

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.

Keywords:

Infertility, recurrent miscarriages, pericentric inversion, inv(12)(p11.2q14),

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