TABLE 5.

Pathogenic CNVs in 16p11.2 with the phenotypes of the solitary functioning kidney in reviewed studies.

Case	CNVs	Deletion/duplication	Pathogenicity	Phenotype	References
1	Chr16: 29,634,212–301,54,740	Deletion	Pathogenic	Unilateral renal agenesis	This study
2	Chr16: 29,673,954–30,198,600	Deletion	Pathogenic partial	Duodenal stenosis, hydronephrosis	Decipher ID: 301482
				Unilateral renal agenesis
3	Chr16: 29,656,684–30,190,568	Deletion	Pathogenic	Global developmental delay, renal dysplasia, tracheomalacia, unilateral renal agenesis	Decipher ID: 370503
4	Chr16: 28,733,550–28,950,951	Deletion	N/A	Patient 1: left renal agenesis, grade-IV vesicoureteral reflux, Hirschsprung disease.	Sampson et al. (2010)
5	Chr16: 28,396,413–30,085,308	Deletion	N/A	Patient 2: left renal agenesis, chronic kidney disease, chronic constipation, seizures, developmental delay.	Sampson et al. (2010)
6	Chr16: 29,528,190–30,107,184	Deletion	N/A	Congenital diaphragmatic hernia, chordae, cleft palate, polydactyly, congenital heart defect, multicystic dysplastic kidney, fusion of lower ribs, and pyloric stenosis.	Shinawi et al. (2010)
7	Chr16: 29,652,360–30,190,593	Deletion	Likely pathogenic	Abnormality of coordination, abnormality of the kidney, autistic behavior	Decipher ID: 331267
8	Chr16: 29,656,012–30,143,015	Duplication	Pathogenic	Anemia, menorrhagia, abnormality of the kidney, onychogryphosis of toe nails, autism, depression, intellectual disability, mild, obsessive–compulsive behavior	Decipher ID: 327119
9	Chr16: 29,500,000–30,100,000	Deletion	N/A	Unilateral multiple renal cysts	OMIM ID: 611913