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Table 3 Five abnormal copy-number variations detected in fetuses with non-isolated renal hypodysplasia

From: Copy number variations associated with fetal congenital kidney malformations

caseCMA resultsSize (Mb)Prenatal ultrasoundPathogenicity classificationObstetrical outcomesInheritance
11arr[hg19]22q11.21 (20,730,143-21,800,471) × 11.0left renal dysplasia; Left choroid plexus cyst; strephenopodiaPTPde novo
12arr[hg19]16q23.2q24.3 (79,800,878-90,146,366)hmz,16p13.3p12.3 (94,807-19,302,326)hmz10.3left renal agenesis; VSD; PVS; FGRpTPUPD
13arr[hg19]4p16.3p15.1 (68,345-35,252,743) × 135renal hypoplasia;FGR; nasal bone dysplasiaPTPde novo
14arr[hg19]7q11.23 (72,701,098-74,069,645) × 31.3left renal agenesis, VSD;PTPde novo
15arr[hg19]16p13.11 (15,325,072-16,272,403) × 30.92left renal dysplasia;URSMSVUSTPde novo
  1. 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