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Table 4 Chromosomal abnormalities inherited from unaffected parents in VSD fetuses

From: Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Case

Prenatal ultrasound

Abnormal fetal chromosomes

Pathogenicity classification

Inheritance

Postnatal outcome

1

VSD

46,XX,inv.(9)(p12q13)

B

Maternal

TD

2

VSD

46,XY,13pstk+

B

Maternal

TD

3

VSD, TR

arr[hg19]5q14.1(76,983,283-77,512,158) × 3

B

Maternal

TD

4

VSD, single umbilical artery

arr[hg19]10q21.1(59,095,330-60,684,488) × 1

B

Maternal

TD

5

VSD, RAA, left kidney dysplasia

arr[hg19]16q23.2q24.3(79,800,878-90,146,366)hmz,16p13.3p12.3(94,807-19,302,326)hmz

P (LOH)

Maternal Normal phenotype

TP

  1. B benign, P pathogenic, RAA right aortic arch, TD term delivery, TP termination of pregnancy, TR tricuspid regurgitation, VSD ventricular septal defect, LOH loss of heterozygosity