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22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

โœ Scribed by Peyvandi, Shabnam; Lupo, Philip J.; Garbarini, Jennifer; Woyciechowski, Stacy; Edman, Sharon; Emanuel, Beverly S.; Mitchell, Laura E.; Goldmuntz, Elizabeth


Book ID
120237345
Publisher
Springer
Year
2013
Tongue
English
Weight
224 KB
Volume
34
Category
Article
ISSN
0172-0643

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22q11.2 deletion mosaicism in patients w
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## Abstract ## BACKGROUND Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral bloodโ€cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth