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Frequency of 22q11 deletions in patients with conotruncal defects

✍ Scribed by Elizabeth Goldmuntz; Bernard J Clark; Laura E Mitchell; Abbas F Jawad; Bettina F Cuneo; Lori Reed; Donna McDonald-McGinn; Peggy Chien; Jennifer Feuer; Elaine H Zackai; Beverly S Emanuel; Deborah A Driscoll


Book ID
118588316
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
80 KB
Volume
32
Category
Article
ISSN
1558-3597

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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 blood‐cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth