Abstract
Balanced chromosomal rearrangements (BCR) occur in approximately 1 in 2000 newborns. The array genomic hybridization (aGH) techniques detected genomic imbalances related or not to chromosome breakpoints in 30 to 50% of BCR cases with abnormal phenotype. Recently, insertions or deletions of few base pairs at breakpoints were identified by Next Generation Sequencing (NGS). The aim of this …