Newly defined Unbalanced distributions of paternal balanced chromosomal translocation and review of the literatüre

Unbalanced distributions of balanced translocation

Authors

  • Şenol Çitli Recep Tayyip Erdoğan Üniversitesi Tıp Fakültesi

DOI:

https://doi.org/10.5281/zenodo.7199890

Abstract

Balanced chromosomal rearrangements (BCR) are rearrangements with no loss or gain of genetic material and usually not associated with clinical abnormalities. However, BCR carriers may have children with a chromosomal anomaly as a result of an unbalanced transfer of chromosomes to the offsprings. The individuals with unbalanced translocations may exhibit congenital anomalies. Two boys with unbalanced translocation and multiple congenital anomalies of a father with a balanced chromosomal translocation of 46,XY.ish t(5;7)(p15-,q36+;q36-,p15+) and a mother with a 46,XX normal chromosome structure were presented. Partial deletion in 5p and partial duplication in 7q (arr[GRCh37] 5p15.33-p15.2x1, 7q36.1-q36.3x3) in one sibling, and partial duplication in 5p and partial deletion in 7q (arr[GRCh37] 5p15.33-p15.2x3, 7q36.1-q36.3x1) in the other sibling were detected. To the best of our knowledge, 5p partial trisomy+7q partial monosomy and 5p partial monosomy+7q partial trisomy have not been previously reported.

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Published

2022-10-22

How to Cite

1.
Çitli S. Newly defined Unbalanced distributions of paternal balanced chromosomal translocation and review of the literatüre : Unbalanced distributions of balanced translocation. İJCMBS [Internet]. 2022 Oct. 22 [cited 2023 Jan. 31];2(3):171-8. Available from: https://ijcmbs.com/index.php/ijcmbs/article/view/66