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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

caseCMA resultsSize (Mb)Renal phenotypePathogenicity classificationObstetrical outcomesInheritance
1arr [hg19]22q11.21 (18,916,842-21,800,471) × 12.8ectopic right kidney with dysplasiapTPde novo
2arr[hg19]17q12(34,822,465-36,311,009) × 11.4left renal dysplasiapTPde novo
3arr[hg19]17q12(34,822,465-36,243,365) × 11.4kidney echo enhancementpTPde novo
4arr[hg19]17q12(34,822,465-36,307,773) × 11.48kidney echo enhancementpTPde novo
5arr[hg19]17q12(34,822,465-36,404,555) × 11.58kidney echo enhancementpTPde novo
6arr[hg19]17p12(14,083,054-15,482,833) × 11.4left renal agenesispTPMaternal
7arr[hg19]3q28(188,788,120-191,331,505) × 1,15q11.2 (23,620,191-24,978,547) × 32.5
right renal agenesispTPde novo
8arr[hg19]9q21.31q21.32 (82,732,469-85,502,241) × 12.7left renal dysplasiaVUSTDde novo
9arr[hg19]2q31q34(111,859,545-209,533,369) × 2–397.9renal dysplasiaVUSTDde novo
10arr[hg19]3p26.1p24.1 (8,494,626-26,413,121)hmz17.9right renal agenesisVUSTDNot reported
  1. P Pathogenic, TD Term delivery, TP Termination of pregnancy, VUS Variation of uncertain clinical significance