Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

• Published in: Genome Research Vol. 18; no. 11; pp. 1733 - 1742
• Main Authors: Gajecka, Marzena, Gentles, Andrew J., Tsai, Albert, Chitayat, David, Mackay, Katherine L., Glotzbach, Caron D., Lieber, Michael R., Shaffer, Lisa G.
• Format: Journal Article
• Language: English
• Published: United States Cold Spring Harbor Laboratory Press 01.11.2008
• Subjects: Base Sequence; Chromosome Breakage; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 22 - genetics; DNA - genetics; DNA Repair; Female; Humans; Letter; Male; Models, Genetic; Molecular Sequence Data; Phenotype; Translocation, Genetic

Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypica...