Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Table 3 Recurrent CHD-associated CNV loci

Locus (hg19)	CNV	Size range (kb)	Cardiac Phenotypes	Frequency in our study	Frequency in control	p Value
4qter	Deletion	4559-19269	DORV, right dominant AV canal, hypoplastic LV, multiple VSDs, BAV, CoA, DILV, hypoplastic aortic arch, TOF, PFO	5/502	0/9170^a	<0.0001
15q11.2	Deletion	245-2703	D-TGA, VSD, ASD, PS, CoA, PDA, AS, AR, left ventricular dysfunction	4/502	19/9170	0.0289
16p12.2^c	Deletion	480	ASD, TAPVC, PDA	3/502	3/9170	0.0025
Yp11.2	Deletion	1300-3000	ASD, CoA, PFO	3/502	12/32850^b	<0.0001

^acontrol cases from Soemedi et al. [8] and Cooper et al. [21].
^bcontrol cases from Repnikova et al. [22].
^cThe chromosome coordinates for this deletion map to 16p12.1 in hg18, but map to 16p12.2 in hg19.

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