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

Unbalanced distributions of balanced translocation

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.