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 |