46,XY, inv(17)(p11.2q12) Perisentrik İnversiyon Taşıyan Bir Olgu

Year 2019, Volume: 3 Issue: 3, 112 - 114, 03.12.2019

Murat Kaya

Abstract

İnversiyon, bir kromozomda iki farklı kromozomal
bölgenin kırılması ve ardından kırılan parçanın 180° dönerek kırık bölgesine
tekrar yapışması ile oluşur. Perisentrik ve parasentrik olmak üzere iki tip
inversiyon vardır. Perisentrik inversiyonlar çoğunlukla dengeli kromozom
anomalisi olarak oluştuğu için fenotipi etkilemezler ancak perisentrik inversiyon
taşyıcılarının dengesiz gamet üretme olasılığının artmasına bağlı olarak bu
bireylerin anomalili çocuk sahibi olma riskleri de artmaktadır. Bu olgu
sunumunda birimimize tekrarlayan düşük nedeniyle başvuran olguda saptanan
inv(17)(p11.2q12) kromozom anomalisi üzerinde durulmaktadır

Keywords

Tekrarlayan düşükler, perisentrik inversiyon, kromozom anomalisi

A Case With Pericentric Inversion 46, XY, inv(17)(p11.2q12)

Abstract

Inversion
is an intra-chromosomal rearrangement resulting from a two-break event occurring
on the chromosome, followed by the insertion of the cromosomal fragment after a
180° rotation. The reare two types of chromosomal inversions: pericentric and paracentric.
Pericentric inversions mostly do not affect the phenotype because they lead to balanced
chromosomal anomalies. As the probability of producing unbalanced gametes of
perisentric inversion carriers is higher, the risk of having children with anomalies
increases. In this case report, inv (17) (p11.2q12) chromosomal anomaly which
is found in our case with miscarriages, is emphasized.

Keywords

Miscarriages, pericentric inversion, chromosome abnormality

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