Table 1 Molecular and clinical data in a fetus with partial tetrasomy 13q
From: Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
Mascarenhas et al. [8] | Haddad et al. [9] | Present case (2023) | |
|---|---|---|---|
Region | q31-qter | q31-qter | q31.1-qter |
Neocentromere location | 13q31 | 13q31 | 13q31.1 |
Mosaicism (%) | 100 | 100 | 100 |
Sex | F | M | M |
Gestational age | 23 WG | 17 WG | 17 WG |
Growth delay | NA | + | − |
Microcephaly | NA | − | − |
Macrocephaly | NA | NA | + |
Hypertelorism | − | − | − |
Hypotelorism | + | − | − |
Nose abnormalities | + | + | − |
Philtrum | NA | − | − |
Cleft palate/lips | − | − | − |
High palate | − | − | NA |
Microphthalmia | − | − | − |
Coloboma | NA | − | NA |
Abnormal ears | + | + | − |
Heart defects | NA | − | + |
Lung defects | NA | − | − |
Gastrointestinal malrotation | NA | + | − |
Polydactyly | NA | + | + |
Skeletal abnormalities | NA | + | + |
Genital abnormalities | NA | + | − |
Renal defect | + | + | NA |
Cerebral midline defect | NA | NA | + |