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Article

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Genes - 17 Sept 2022

Pastor Steven, Tran Oanh, McGinn Daniel E, Crowley T Blaine, Zackai Elaine H, McDonald-McGinn Donna M, Emanuel Beverly S

Abstract excerpt

The most prevalent microdeletion in the human population occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has eluded characterization due to a combination of size, regional complexity, and haplotype diversity. To further complicate matters, it is not well represented in the human reference genome. Most individuals with 22q11.2 deletion syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36140835
DOI: 10.3390/genes13091668
PMCID: PMC9498844

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A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.PMID 36140835Read ↗

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