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Article

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Nature communications - 18 Apr 2026

Porubsky David, Yoo DongAhn, Koundinya Nidhi, Souche Erika, Dishuck Philip C, Dierckxsens Nicolas, Harvey William T, Munson Katherine M, Hoekzema Kendra, Chan Daniel D, Leung Tiffany Y, Santos Marta S, Meynants Senne, Swillen Ann, Breckpot Jeroen, Tsapalou Vasiliki, Hasenfeld Patrick, Korbel Jan O, Lansdorp Peter M, Vermeesch Joris R, Eichler Evan E

Abstract excerpt

Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is mediated by high-identity polymorphic low-copy repeats (LCRA-to-D) that have been challenging to sequence characterize. We sequence-resolved 135 chromosome 22q11.2 haplotypes from diverse humans and define 63 distinct structural configurations differing in size by 11-fold for LCRA. This diversity is driven by a 105 kbp segmental duplication flanked by 25...

Topics

Humans
Chromosome Inversion
Chromosomes, Human, Pair 22
Haplotypes
DiGeorge Syndrome
Chromosome Deletion
Male
Female
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Segmental Duplications, Genomic

Chromosome Duplication

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Open in PubMed Open full text

Identifiers

PMID: 42000714
DOI: 10.1038/s41467-026-71905-y
PMCID: PMC13103302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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