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Table 2 Ten abnormal copy-number variations detected in fetuses with isolated renal hypodysplasia

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

  1. P Pathogenic, TD Term delivery, TP Termination of pregnancy, VUS Variation of uncertain clinical significance