Table 1. Q-PCR determination of copy number.

Case	CDKN1C	KCNQ1 intron 1C	KCNQ1OT1	KCNQ1 exon 11	IGF2
III-3	0.98	0.53	0.50	0.45	0.94
II-2	1.02	0.54	0.52	0.46	1.08
II-1	0.96	0.50	0.43	0.40	0.99
I-2	0.96	0.51	0.46	0.54	0.93
I-1	0.89	1.01	0.90	1.28	1.09

Relative gene copy number analysis for amplicons across the KCNQ1 and flanking loci determined by Q-PCR. The heading KCNQ1OT1 refers to DNA within the KCNQ1OT1 region. The values shown are the ratio of the means of triplicate copy number determinations relative to the mean of the CFTR reference gene copy number. Deletion within the KCNQ1 locus is suggested by reduced copy number in the DNA from I-2, II-1, II-2 and III-1. Normal copy number is maintained in I-1.