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

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

References

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