Table 2.
Six pathogenic CNVs detected in fetal CAKUT with normal karyotypes
| Case | CMA results | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Candidate renal gene(s) | Inheritance |
|---|---|---|---|---|---|---|
| G9727 | arr[hg19]17q12(34 822 465‐36 311 009)×1 | 1.4 | Unilateral polycystic kidney dysplasia | P | HNF1B | De novo |
| G9932 | arr[hg19]22q11.21(18 916 842‐21 800 471)×1 | 2.8 | Unilateral polycystic kidney dysplasia | P | ‐ | Not available |
| E2031 | arr[hg19]17p12(14 083 054‐15 482 833)×1 | 1.4 | Left renal agenesis | P | ‐ | Maternal |
| E2044 | arr[hg19]3q28(188 788 120‐191 331 505)×1, 15q11.2(23 620 191‐24 978 547)×3 |
2.5 1.3 |
Right renal agenesis | P | CLDN16 | Not available |
| P833 | arr[hg19]16q23.2q24.3(79 800 878‐90 146 366) hmz, 16p13.3p12.3(94 807‐19 302 326) hmz | 10.3 | Unilateral renal agenesis; VSD; PVS; FGR | P | ‐ | Maternal |
| E2401 | arr[hg19]7q11.23(72 701 098‐74 069 645)×3 | 1.3 | Unilateral renal agenesis; VSD | P | ‐ | De novo |
Abbreviations: FGR, fetal growth restriction; P, pathogenic; PVS, pulmonary valve stenosis; VSD, ventricular septal defect.