Table 1 Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
From: Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
NO | Age | Intrauterine phenotypes | Prenatal diagnosis | Karyotype | CMA result | Inheritance | Trio-MES | Pregnancy outcome | |
|---|---|---|---|---|---|---|---|---|---|
CNVs type | Sizes | ||||||||
1 | 27 | Hyperechogenic of fetal aortic valve | Amniocentesis for singleton | 46, XX | arr[GRCh37] 7q11.23(72,600,482–74,175,485) × 3 | 1.5 Mb | De novo | – | TOP |
2 | 28 | Cleft palate, low-lying conus medullaris, shortened fetal long bones | Amniocentesis for singleton | 46, XY | arr[GRCh37] 7q11.23(72,701,098–74,133,586) × 3 | 1.4 Mb | De novo | de novo heterozygous variants in COL2A1(NM_001844),c.3472G > A(p.G1158S) | TOP |
3 | 23 | Left ventriculomegaly, severe hydronephrosis of the left kidney with dilatation of the left ureter | Amniocentesis for singleton | 46, XX | arr[GRCh37] 7q11.23(72752339_74146927) × 3 | 1.4 Mb | Unknown | – | Premature delivery by cesarean section. Birth weight was 2.1 kg |
4 | 26 | Anencephalus | Amniocentesis for MCDA twins | 46, XY | arr[GRCh37] 7q11.23(72,701,098–74,069,645) × 3 | 1.4 Mb | De novo | – | TOP |
5 | 26 | – | Amniocentesis for MCDA twins | 46, XY | arr[GRCh37] 7q11.23(72,701,098–74,069,645) × 3 | 1.4 Mb | De novo | – | |
6 | 32 | Bilateral ventriculomegaly, low-lying conus medullaris, dilated ascending aorta | Amniocentesis for MCDA twins | 46, XY | arr[GRCh37] 7q11.23(72692113_74162823) × 3 16p13.11(14892976_16309046) × 3 | 1.5 Mb | Maternal | – | Premature delivery by cesarean section, their birth weight was 1.15 kg/1.25 kg, respectively |
7 | 32 | Bilateral ventriculomegaly, low-lying conus medullaris, dilated ascending aorta | Amniocentesis for MCDA twins | 46, XY | arr[GRCh37] 7q11.23(72692113_74162823) × 3 16p13.11(14892976_16309046) × 3 | 1.5 Mb | Maternal | – | |