Article

Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions

2025-10-19

Abstract excerpt

<h4>ABSTRACT</h4> This study is aimed to determine the spectrum of congenital heart disease associated with distal 22q11.22-23 deletions flanked by low copy repeats, LCR22 D-H. We analyzed cardiology findings in 128 unrelated individuals with distal LCR22 D-H deletions. A total of 62 were newly described and 66 were derived from previous reports. We found that deletions which included LCR22-D as the proximal endp...

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Literature Corpus work: 8c1a41b5-4e93-5913-87c3-6ed486dea320
DOI: 10.1101/2025.10.15.25337915

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