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Table 1 The results of dPCR in retrospective study

From: Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay

CMA

n

dPCR

Positive

Negative

22q11.2 deletion /duplication

15

11

4*

Negative

115

4

111

total

130

15

115

  1. *Contain one 22q11.2 duplication sample was identified as a deletion
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172