Reported cases
|
Partial trisomy
|
Phenotype
|
Present case | 12p12.1-q12 (ring chromosome) |
Dorsal and lumbar hemivertebrae, sacral agenesis, anorectal malformation, unilateral kidney agenesis, rib fusion |
Callenet al, case 52
| Chr 12 pericentromeric region (ring chromosome) | Delayed development,vescicoureteric reflux |
Callenet al, case 42
| Chr 12 pericentromeric region (ring chromosome) | Undetermined |
Rethoré et al
26
| 12pter-q12 |
Bilateral hydronephrosis, rudimentary left kidney |
12p syndrome |
Kondo et al
25
| | 12p syndrome |
Stengel-Rutkowsky et al, case 118
| 12pter-q12 | Congenital heart disease, incomplete intestinal rotation, Meckel diverticulum, 12p syndrome |
Stengel-Rutkowsky et al, case 218
| 12pter-p11 |
Anal atresia, hypospadias, 12p syndrome |
Guerriniet al
19
| 12pter-p11 | Cerebral malformation, 12p syndrome |
Biederman et al
27
| 12pter-p11 | Congenital heart disease, 12p syndrome |
Rauch et al,21Rivera et al
24
| 12pter-p11 | 12p syndrome |
Rauchet al, case 121
| 12pter-p11.21 | 12p syndrome |
Pfeifferet al
20
| 12p13.3-p11.2 | 12p syndrome |
Rauch et al,21Allen et al,22 Backet al
23
| 12pter-12.1 | 12p syndrome |