From: Copy number variations associated with fetal congenital kidney malformations
case | CMA results | Size (Mb) | Renal phenotype | Pathogenicity classification | Obstetrical outcomes | Inheritance |
---|---|---|---|---|---|---|
1 | arr [hg19]22q11.21 (18,916,842-21,800,471) × 1 | 2.8 | ectopic right kidney with dysplasia | p | TP | de novo |
2 | arr[hg19]17q12(34,822,465-36,311,009) × 1 | 1.4 | left renal dysplasia | p | TP | de novo |
3 | arr[hg19]17q12(34,822,465-36,243,365) × 1 | 1.4 | kidney echo enhancement | p | TP | de novo |
4 | arr[hg19]17q12(34,822,465-36,307,773) × 1 | 1.48 | kidney echo enhancement | p | TP | de novo |
5 | arr[hg19]17q12(34,822,465-36,404,555) × 1 | 1.58 | kidney echo enhancement | p | TP | de novo |
6 | arr[hg19]17p12(14,083,054-15,482,833) × 1 | 1.4 | left renal agenesis | p | TP | Maternal |
7 | 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 | TP | de novo |
8 | arr[hg19]9q21.31q21.32 (82,732,469-85,502,241) × 1 | 2.7 | left renal dysplasia | VUS | TD | de novo |
9 | arr[hg19]2q31q34(111,859,545-209,533,369) × 2–3 | 97.9 | renal dysplasia | VUS | TD | de novo |
10 | arr[hg19]3p26.1p24.1 (8,494,626-26,413,121)hmz | 17.9 | right renal agenesis | VUS | TD | Not reported |