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Table 4 Characteristics of clinically significant CNVs identified in 16 fetuses with ultrasound anomalies of the kidney

From: Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?

Case Genomic disorder CNV a Type Size (Mb) Clinical significance Kidney anomaly Urinary tract anomaly Extrarenal anomaly Karyotype
1 RCAD syndrome 17q12(34477479_36397323) × 1 del 1.92 Pathogenic MCDK (R) 46, XX
2 RCAD syndrome 17q12(34822465_36283612) × 1 mat del 1.46 Pathogenic Hydronephrosis (L) + MCDK (R) Dilated ureter (L) 46, XY
3 RCAD syndrome 17q12(34477479_36410559) × 1 dn del 1.93 Pathogenic Bilateral hydronephrosis 46, XY
4 RCAD syndrome 17q12(34822465_36404138) × 1 dn del 1.58 Pathogenic Bilateral MCDK 46, XY
5 22q11 deletion syndrome 22q11.21(18916842_21800471) × 1 dn del 2.88 Pathogenic Ectopic kidney (L) Ureterocele 46, XX
6 22q11 deletion syndrome 22q11.21(18916842_21798907) × 1 dn del 2.88 Pathogenic Bilateral renal dysplasia Truncus arteriosus, right aortic arch, absent ductus arteriosus, short penis, thickened nuchal fold, 46, XY
7 Wolf-Hirschhorn syndrome/8p23.1-pter duplication 4p16.3(68345_3950060) × 1, 8p23.3p23.1(158048_7044046) × 3 del/dup 3.88/6.89 Pathogenic/ pathogenic Bilateral renal dysplasia FGR, persistent left superior vena cava, absent nasal bone 46, XX, der(4)t(4;8)
(p16.3;p23.2)
8 Rubinstein-Taybi syndrome 16p13.3(3827552_3935836) × 1 del 0.11 Pathogenic Ectopic kidney (R) 46, XX
9 20q13.33-qter duplication/Phelan-Mcdermid syndrome 20q13.33(60862389_62915555) × 3, 22q13.31q13.33(44465713_51197838) × 1 dup/del 2.05/6.70 Pathogenic/ pathogenic MCDK (L) 46, XY
10 Sotos syndrome 5q35.2q35.3(175570677_177469711) × 1 dn del 1.90 Pathogenic Ectopic kidney (R) FGR, bilateral mild ventriculomegaly 46, XX
11 Williams-Beuren syndrome 7q11.23(72701018_74141746) × 1 del 1.44 Pathogenic Ectopic kidney (R) FGR 46, XX
12 Bardet-Biedl syndrome 3/ Charcot-Marie-Tooth syndrome type 1A (CMT1A) 3q11.2(97414335_97520233) × 3, 17p12(14108911_15473312) × 3 dup/dup 0.11/1.36 Likely pathogenic /pathogenic Bilateral renal dysplasia FGR, oligohydramnios, absent end-diastolic velocity in umbilical artery Unknown
13 Proximal 6q deletion 6q14.2q15(84775390_89494504) × 1 dn del 4.72 Pathogenic Hydronephrosis (R) Persistent left superior vena cava, mild ventriculomegaly (R), cavum velum interpositum cyst 46, XX
14 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) 16p13.11(15936927_16146987) × 3 dup 0.21 Likely pathogenic Hydronephrosis (R) Echogenic intracardiac foci 46, XY
15 15q11.2 recurrent deletion (BP1-BP2) 15q11.2(22770421_23282799) × 1 del 0.51 Likely pathogenic Duplex kidney (L) Dilated ureter (L) Echogenic intracardiac foci 46, XX, 22pss
16 Mental retardation and microcephaly with pontine and cerebellar hypoplasia Xp11.4(41749904_41998547) × 1 Loss 0.25 Likely pathogenic Bilateral renal dysplasia FGR, micrognathia, persistent left superior vena cava, posterior fossa cyst, cerebellar hypoplasia, Blake’s pouch cysts, thickened subcutaneous soft tissue 46, XX
  1. CNV copy number variant, MCDK multicystic dysplastic kidney, L left, R right, FGR fetal growth restriction, mat maternal, dn de novo, del deletion, dup duplication
  2. aCNV positions are based on the UCSC genome build hg19