. 2016 Jul 20;24(12):1715–1723. doi: 10.1038/ejhg.2016.86

Table 2. De novo CNVs in OA/TOF patients described in literature.

Cytoband	CNV	Minimum length (bp)	(Candidate) genes	Phenotypes	Reference
1q41	hg19 chr1:g.(?_217879151)_(218010441_?)dup hg19 chr8:g.(?_144940222)_(145060112_?)dup	131 290 119 890	SPATA17 PLEC-1, PARP10	OA, butterfly vertebra, anal atresia without fistula, atrial and ventricular septal defects, bilateral dystopic kidneys, left-sided renal dysplasia	²¹
2q33.2q35	hg19 chr2:g.(?_204,394,564)–(219,189,331_?)del	14 794 767	MAP2	OA, agenesis of umbilical artery, multiple brain abnormalities, tapered fingers, clinodactyly of the fifth fingers, deviated feet	²²
3q28	hg19 chr3:g.(?_187913191)_(188468682_?)del	555 491	LPP	OA/TOF, tetralogy of Fallot, rib anomalies, hypospadias, small kidneys	²³
7q35q36	hg19 chr7:g.(?_147683847)_(159088636_?)del	11 404 789	SHH, MNX1	Oesophageal stenosis, microcephaly, facial dysmorphism hypoplasia of the lower lumbar vertebrae, lumbosacral hyperlordosis, partial agenesis of sacrum, distended bladder, right ectopic kidney, developmental delay	^{24, 25}
11q13.1q13.2	hg19 chr11:g.(?_65508902)_(67473140_?)del	1 964 238	GSTP1	OA, facial dysmorphism, developmental delay	²⁶
17q12	hg19 chr17:g.(?_34727386)_(36297053_?)dup	1 569 667	AATF, TADA2L, HNF1B	OA/TOF, anal atresia, sacral bone defect, cryptorchidism	²⁷
20q13.33	hg19 chr20:g.(?_60238426)_(60895697_?)del	657 271	GTPBP5	OA/TOF, ventricular septal defects, hypospadias, large unilateral hydrocele, large left cystic hygroma	²⁸

Depicted are the few published de novo CNVs in patients with nonsyndromic OA/TOF. Chromosome region according to build hg19.