Article
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Scientific reports - 22 Jul 2020
Pastor Steven, Tran Oanh, Jin Andrea, Carrado Danielle, Silva Benjamin A, Uppuluri Lahari, Abid Heba Z, Young Eleanor, Crowley T Blaine, Bailey Alice G, McGinn Daniel E, McDonald-McGinn Donna M, Zackai Elaine H, Xie Michael, Taylor Deanne, Morrow Bernice E, Xiao Ming, Emanuel Beverly S
Abstract excerpt
The most prevalent microdeletion in humans occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has defied elucidation due to its size, regional complexity, and haplotype diversity, and is not well represented in the human genome reference. Most individuals with 22q11.2 deletion syndrome (22q11.2DS) carry a de novo hemizygous deletion of ~ 3 Mbp occurring...
Topics
- Alleles
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Female
- Genome, Human
- Haplotypes
- Homologous Recombination