Table 4.
Copy-number variants (CNVs) identified (from WES data of 62 families) which are relevant to the patient's phenotype
| Family ID | Chromosomal region | CNV Type | Start (Mb) | End (Mb) | Size (Mb) | Number of genes | Syndrome | Phenotype | Parental Studies | Comments |
|---|---|---|---|---|---|---|---|---|---|---|
| Family 34 | 22q11 | Trp | 16.63 | 18.64 | 2.01 | 33 | Cat eye syndrome | VUR, further details in text (multiple anomalies) | De Novo | Pathogenic |
| Family 39 | 16p13.11 | Dup | 15.12 | 16.29 | 1.17 | 19 | 16p13.11 dup | MCDK, facial dysmorphic features | Unknown | Pathogenic |
| Family 10 | 16p11.2 | Dup | 29.68 | 30.20 | 0.52 | 35 | 16p11.2 dup | Solitary kidney, psychiatric disorder, hypothyroidism | Unknown | Pathogenic |
| Family 31 | 16p11.2 | Del | 28.83 | 29.04 | 0.21 | 13 | 16p11.2 del | VUR, seizure, DD, LD, and optic edema | Unknown | Pathogenic |
| Family 33 | 3q29 | Dup | 197.51 | 197.59 | 0.08 | 2 | - | VUR, cataract, and growth delay | Unknown | VUS |
| Family 25 | 2p24.3 | Del | 15.30 | 15.38 | 0.08 | 1 | - | PUV, heterotaxy | Inherited | VUS |
| Family 21 | 4q35.1 | Dup | 185.99 | 189.11 | 3.12 | 30 | - | PUV | Inherited | VUS |
DD, developmental delay; del, deletion; dup, duplication; LD, learning disability; MCDK, multicystic dysplastic kidney; PUV, posterior urethral valve; trp, triplication; VUR, vesicoureteral reflux; VUS, variant of uncertain clinical significance