Table 3 Clinical manifestation of the fetuses
From: A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
Clinical information | Previous fetus | Present fetus |
|---|---|---|
Inheritance | De novo | De novo |
Nucleotide change | NM_001288653.1 c.3662_3664del | NM_004859.3: c.3249 + 1_3249 + 168ins |
Amino acid change | p.(Leu1221del) | p.Val1084LeufsTer7 |
| Â | One of the dichorionic diamniotic twins | singleton |
Ultrasound Manifestation | ||
11 weeks of gestation | Â | ventricular septal defect 0.02Â cm |
16 weeks of gestation | Â | bilateral choroid plexus cysts of the brain hyperechogenic kidneys VSD |
18 weeks of gestation | fetal growth restriction | Â |
26 weeks of gestation | atrioventricular septal defect; right lateral ventriculomegaly multiple cystic lesions along the left lateral ventricle of the brain | Â |