Comparison of clinical features in four cases of t(13q;13q)/r(13) mosaicism, our patient, r(13)q2/q13-150, and partial 13q14→13qter trisomy3-151 (modified by Duckett et al18)
| Clinical features | Oka et al15 | Duarte et al16 | Jalal et al17 | Duckett et al18 | Our case | r(13) q2/q1 | Trisomy 13 q14→qter |
|---|---|---|---|---|---|---|---|
| Peripheral blood karyotype | |||||||
| % trisomy 13 | 75 | 74 | 34 | 53 | 95 | ||
| % ring 13 | 25 | 26 | 66 | 47 | 5 | ||
| Growth retardation | + | + | + | + | + | 3/3 | 7/11 |
| Psychomotor retardation | + | + | ND | ND | + | ND | 11/11 |
| Position or articular defects | − | − | − | − | + | ND | |
| Hypotonia | − | − | − | − | + | ND | 3/11 |
| Haemangioma | − | − | − | − | + | 0/3 | 4/11 |
| Microcephaly | + | + | + | − | + | ND | 3/11 |
| Micrognathia | − | − | + | − | + | 1/3 | 4/11 |
| Cleft/high arched palate | + | + | + | − | − | 3/3 | 9/11 |
| Short webbed neck | − | − | + | − | + | 1/3 | 2/11 |
| Broad nasal bridge | + | + | + | + | + | 3/3 | 1/11 |
| Low set/dysplastic ears | + | + | + | − | + | 2/3 | 9/11 |
| Short philtrum | − | − | − | − | − | 3/3 | 0/11 |
| Hypertelorism | + | + | + | + | + | 3/3 | 0/11 |
| Epicanthus | + | + | + | + | + | 2/3 | 3/11 |
| Short upward slanting palpebral fissures | − | − | + | − | + | 1/3 | 4/11 |
| Absent/hypoplastic thumbs | − | + | + | − | − | 2/3 | 0/11 |
| Hypoplastic fingers/toes | + | + | + | + | − | 3/3 | 0/11 |
| Clinodactyly/syndactyly | − | − | + | − | − | 1/3 | 1/11 |
| Hexadactyly | − | − | − | − | − | 0/3 | 6/11 |
| Congenital heart defects | + | − | − | − | + | 1/3 | 1/11 |
| Renal anomalies | − | − | + | − | − | 2/3 | 1/11 |
| Anterior/imperforate anus | − | + | + | + | − | 3/3 | 0/11 |
| Neural tube defects | − | − | + | − | − | 2/3 | 0/11 |
| Vertebral or costal abnormalities | − | − | − | + | + | 1/3 | 6/11 |
| Genital malformations | − | − | − | − | − | 2/3 | 7/11 |
| Increased PMN projections HbF persistence | − | − | − | − | − | 0/3 | 1/11 |
| Other | Duplicated oesophagus | Microphthalmia | Sensorineural deafness | Hypoplastic organs | |||