Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method

Table 2

MQF-PCR detection of eight human microdeletion syndromes.

Syndrome	Patient	Z-statistics score
WAGR	3.3	−5.14
	6.3A	−5.23
	8.3	−5.72
	17.3A	−5.47
	18.3A	−5.41
	21.3	−5.55
	24.3A	−5.55
	29.3C	−5.44
	GM06803	−6.97
Smith-Magenis	SMS105	−4.42
	SMS123	−5.19
	SMS135	−4.18
	SMS162	−4.27
	SMS167	−3.69
	SMS170	−4.38
	SMS179	−2.93
	SMS182	−4.87
	SMS217	−4.26
	SMS293	−4.18
	SMS336	−5.48
Potocki-Lupski	SMS224	2.81
	SMS338	5.64
	11166	8.72
Xp22.3	Simulated patient	0.01±0.14^a
Langer-Giedion	GM09888	−7.40
	12550	−7.12
Greig cephalopolysyndactyly	GM10925	−3.12
Miller-Dieker lissencephaly	GM09208	−6.36
Saethre-Chotzen	10051	−6.43

aArithmetic mean of Z-scores, standard deviation of mean.