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Article

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

American journal of human genetics - 5 Oct 2017

Demaerel Wolfram, Hestand Matthew S, Vergaelen Elfi, Swillen Ann, López-Sánchez Marcos, Pérez-Jurado Luis A, McDonald-McGinn Donna M, Zackai Elaine, Emanuel Beverly S, Morrow Bernice E, Breckpot Jeroen, Devriendt Koenraad, Vermeesch Joris R

Abstract excerpt

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have...

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Identifiers

PMID: 28965848
DOI: 10.1016/j.ajhg.2017.09.002
PMCID: PMC5630191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28965848-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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