Article

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

2024-03-19

Abstract excerpt

The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short read sequencing cannot resolve the complex segmental duplicon structure to provide direct confirmation of the hypothesis that the rearrangements are caused by non-allelic homologous recombination between the low copy repeats...

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Literature Corpus work: d73ec649-1d29-5122-8422-bc29c03481fe
DOI: 10.1101/2024.03.14.585046

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