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Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

โœ Scribed by Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
172 KB
Volume
143A
Category
Article
ISSN
1552-4825

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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