Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

摘要

Molecular cytogenetic analysis for Family 1. The pedigree of family 1 with the proband (II-2) indicated by an arrow. Black spot, induced labor; open symbols, unaffected individuals; square with black spots, male carriers; circles, females. The husband in family 1 was a carrier for a complex translocation between chromosome 6, 10, and 19 by G-banding analysis. Whole genome DNA sequencing of peripheral blood from the carrier revealed four breakpoint rearrangement karyotypes. The genetic material from chromosomes 6, 10, and 19 is indicated as purple, yellow, and blue lines, respectively. BP stands for breakpoint. Type IV CCR Hexavalent Configurations. type IV CCR, as refined by whole-genome mate-pair sequencing in the current study. The additional breakpoint as well as possible recombination at the “middle segment” in type IV CCR increases the percentage of unbalanced gametes, and subsequent reproductive risk. Genetic material from chromosomes 6, 10, and 19 is shown as purple, yellow, and blue lines, respectively