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. 2020 Mar 24;13:11. doi: 10.1186/s13039-020-00481-7

Table 3.

Five abnormal copy-number variations detected in fetuses with non-isolated renal hypodysplasia

case CMA results Size (Mb) Prenatal ultrasound Pathogenicity classification Obstetrical outcomes Inheritance
11 arr[hg19]22q11.21 (20,730,143-21,800,471) × 1 1.0 left renal dysplasia; Left choroid plexus cyst; strephenopodia P TP de novo
12 arr[hg19]16q23.2q24.3 (79,800,878-90,146,366)hmz,16p13.3p12.3 (94,807-19,302,326)hmz 10.3 left renal agenesis; VSD; PVS; FGR p TP UPD
13 arr[hg19]4p16.3p15.1 (68,345-35,252,743) × 1 35 renal hypoplasia;FGR; nasal bone dysplasia P TP de novo
14 arr[hg19]7q11.23 (72,701,098-74,069,645) × 3 1.3 left renal agenesis, VSD; P TP de novo
15 arr[hg19]16p13.11 (15,325,072-16,272,403) × 3 0.92 left renal dysplasia;URSMS VUS TP de novo

FGR Fetal growth restriction, p Pathogenic, PVS Pulmonary valve stenosis, TP Termination of pregnancy, UPD Uniparental disomy, URSMS Urorectal septum malformation sequence, VSD Ventricular septal defect, VUS Variation of uncertain clinical significance