ena-STUDY-KAROLINSKA INSITUTET-08-05-2018-14:08:02:199-79
Different clustered copy number variants in a mother and daughter are explained by unequal crossing-over during meiosis
Germline complex genomic rearrangements (CGRs) may involve one or more chromosomes and are thought to form through single cataclysmic events followed by the formation of multiple adjacent breakpoint junctions.Herein we present CGRs on chromosome 5p that through non-allelic homologous recombination has evolved from a seemingly chromothriptic rearrangement in the mother into an even more complex rearrangement in the daughter involving both deletions and duplications.
Germline complex genomic rearrangements (CGRs) may involve one or more chromosomes and are thought to form through single cataclysmic events followed by the formation of multiple adjacent breakpoint junctions.Herein we present CGRs on chromosome 5p that through non-allelic homologous recombination has evolved from a seemingly chromothriptic rearrangement in the mother into an even more complex rearrangement in the daughter involving both deletions and duplications.