Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Human molecular genetics - 15 Nov 2019
Vervoort Lisanne, Demaerel Wolfram, Rengifo Laura Y, Odrzywolski Adrian, Vergaelen Elfi, Hestand Matthew S, Breckpot Jeroen, Devriendt Koen, Swillen Ann, McDonald-McGinn Donna M, Fiksinski Ania M, Zinkstok Janneke R, Morrow Bernice E, Heung Tracy, Vorstman Jacob A S, Bassett Anne S, Chow Eva W C, Shashi Vandana, Vermeesch Joris R
Abstract excerpt
The majority (99%) of individuals with 22q11.2 deletion syndrome (22q11.2DS) have a deletion that is caused by non-allelic homologous recombination between two of four low copy repeat clusters on chromosome 22q11.2 (LCR22s). However, in a small subset of patients, atypical deletions are observed with at least one deletion breakpoint within unique sequence between the LCR22s. The position of the chromosome...
Topics
- Adult
- Alleles
- Chromosome Breakpoints
- Chromosome Deletion
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome