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 |