Table 2 Clinical features of patients with trisomy 12 diagnosed postnatally
Richer et al. [3] | Patil et al. [4] | Leschot et al. [11] | Von Koskull et al. [12] | English et al. [13] | *Bischoff et al. [14] | Aughton et al. [9] | |||
|---|---|---|---|---|---|---|---|---|---|
A | B | C | |||||||
Clinical Manifestations | |||||||||
Age at diagnosis | 31y | 16y | 9 m | Neonatal | 6y | Neonatal | Neonatal | Neonatal | 9 m |
Developmental Delay | − | + | − | − | − | − | − | − | − |
Broad forehead | - | − | − | + | − | − | − | − | − |
1Eye alterations | - | + | − | + | − | − | − | − | − |
Broad nasal bridge | − | + | − | + | − | − | − | − | − |
2Dysmorphic ears | − | − | − | + | − | − | + | − | − |
Short neck | − | − | − | + | − | − | − | − | − |
3Other DFF | − | + | − | + | + | − | + | − | + |
4Musculoskeletal deformities | − | + | − | + | + | − | + | − | + |
5Congenital heart defects | − | − | − | + | + | − | − | − | − |
6Pigmentary mosaicism | − | − | − | − | Hyper | − | − | − | − |
Genomic Analysis | |||||||||
Tissue analyzed | PB | PB Skin | AF/UCB/Placenta/Skin/ Urine sediment | AF/Placenta/ Skin | PB/Skin | CVS/ Placenta | Placenta | CVS/AF | Skin |
Cytogenetic Analysis: % of trisomy 12 | PB: 7 | PB: 13.2% Skin: Normal | AF: 64.2 UCB: Normal Placenta: A. 31.2 B. 85 Skin: Normal Urine Sediment: A. 100 B. 77 | AF: 69 Placenta: 100 Skin: 80 | PB: 0.4 Skin: 11 | CVS: 71 Placenta: 100 | Placenta: 17 | CVS: 100 AF: 100 | Skin: 42 |
Molecular Analysis: % of trisomy 12 | − | − | − | − | − | PO | PO FISH | PO | PO FISH PB: 4.2 |
De Lozier- Blanchet et al. [15] | Boulard et al. [10] | Parasuraman et al. [16] | Al Hertani et al. [17] | Hong et al. [18] | Gasparini et al. [5] | |
|---|---|---|---|---|---|---|
Clinical Manifestations | ||||||
Age at diagnosis | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | 2y |
Developmental Delay | − | − | − | + | − | + |
Broad forehead | − | − | − | + | − | + |
1Eye alterations | + | + | − | + | + | + |
Broad nasal bridge | + | − | − | − | − | − |
2Dysmorphic ears | + | - | + | - | + | - |
Short neck | - | − | − | − | + | − |
3Other DFF | + | + | − | + | + | + |
4Musculoskeletal deformities | + | + | − | + | − | − |
5Congenital heart defects | + | + | + | + | − | − |
6Pigmentary mosaicism | Hyper | − | − | Hyper | − | Hyper BL |
Genomic Analysis | ||||||
Tissue analyzed | PB/DS | PB/Skin | AF/UCB | PB/LS/DS | PB | PB/LS/DS |
Cytogenetic Analysis: % of trisomy 12 | PB: Normal DS: 15 Multiple organs (40–100) | PB: Normal Skin: 80 | AF: 25 UCB: 25.7 | PB: Normal LS: Normal DS: 19 | PB: Normal | PB: Normal LS: 28 DS: 28 |
Molecular Analysis: % of trisomy 12 | PO FISH | − | − | − | FISH PB: 6 SNParray PB: 25 | FISH |
**Hu et al. [6] | Hu et al. [7] | Hainz et al. [8] | Patient 1 | Patient 2 | Patient 3 | ||||
|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | ||||||
Clinical Manifestations | |||||||||
Age at diagnosis | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | 8y | Neonatal | 4y |
Developmental Delay | + | + | + | − | − | + | + | + | + |
Broad forehead | − | − | − | + | + | − | − | + | − |
1Eye alterations | + | + | + | + | − | + | + | + | + |
Broad nasal bridge | − | − | − | + | + | + | + | + | − |
2Dysmorphic ears | + | + | + | + | + | + | + | + | − |
Short neck | − | + | − | + | − | + | − | + | − |
3Other DFF | − | + | + | + | + | + | + | + | + |
4Musculoskeletal deformities | + | + | + | + | + | + | + | + | − |
5Congenital heart defects | + | + | + | + | + | + | + | + | + |
6Pigmentary mosaicism | Hyper BL | − | − | Hypo/Hyper | Hyper BL | − | Hypo/Hyper BL | Hyper BL | Hyper BL |
Genomic Analysis | |||||||||
Tissue analyzed | PB/LS/DS | PB | PB | PB | PB | PB/UUC | PB/LS/DS | PB/LS/DS | PB/LS/DS |
Cytogenetic Analysis: % of trisomy 12 | PB (PHA): Normal PB (PMA): 6 LS: 14 DS: Normal | PB (PHA): Normal | PB (PHA): Normal | PB (PHA): Normal | − | PB: Normal UUC: 28 | PB: Normal LS: Normal DS: 88 | PB: Normal LS: 58 DS: 63 | PB: Normal LS: 18 DS: 34 |
Molecular Analysis: % of trisomy 12 | FISH | SNParray PB: 0.2 | CGH PB: 0.4 | SNParray PB: 0.2 FISH PBunc: 40 | FISH PBcult: 11.2 PBunc: 11.2 | FISH PB: 3.5 | PO SNParray | PO SNParray | PO CGH SNParray |