Article

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

2026-02-25

Abstract excerpt

<h4>ABSTRACT</h4> Congenital heart disease (CHD) occurs in over half of individuals with 22q11.2 deletion syndrome (22q11.2DS), but lesion type varies widely. We analyzed 3,016 unrelated postnatal individuals with 22q11.2DS from specialized centers in the United States, Canada, Europe, South America, Israel, and Australia, including 1,868 with whole-genome sequencing. The typical 3 Mb LCR22 A-D deletion was prese...

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Literature Corpus work: 9d447aef-549e-52e4-a552-12187bb8cf1e
DOI: 10.64898/2026.02.23.26346918

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