Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

Table 3

Overview of the qPCR markers results.

Sample types	Marker	𝑛	ΔKCt
			Mean	SD	Median	Maximum	Minimum
Normal controls	PRKCZ	50	−0.0612	0.1554	−0.0533	0.3551	−0.3661
	SKI	50	−0.1264	0.1401	−0.1514	0.1956	−0.3794
Positive group	PRKCZ	39	−0.9696	0.1649	−0.9634	−0.6676	−1.2644
	SKI	39	−1.0287	0.2880	−1.0710	−0.2876^a	−1.5803

ΔKC_t: fold copy number change; 𝑛: sample size; SD: standard deviation.
ΔKC_t results (expressed as mean ΔKC_t  ± SD) consistent with the loss of one allelic copy are indicated in bold.
^aΔKC_t result obtained for patient 11 (subject 11 of Supplementary Table  2), indicative of nondeletion of SKI gene. This patient presented hemizygosity of PRKCZ (ΔKC_t=−1.2278), confirming that he has monosomy 1p36. Equal results were obtained by MLPA (data not shown). The remaining 38 patients had ΔKC_t results corresponding to hemizygous microdeletion of SKI (−0.5479 to −1.5803) and PRKCZ (−0.6676 to −1.2644).