TABLE I.
Phenotype and Genotype Correlation of 15q26 Microdeletion and Ring Chromosome 15
|
Slavotinek et al. [2005] |
Klaassens et al. [2005] |
Glass et al. [2006] |
||||
|---|---|---|---|---|---|---|
| Features | Present case | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 |
| Growth | ||||||
| IUGR | NR | + | − | + | + | − |
| Short stature | + | NA | NA | NR | + | + |
| Delayed bone age | + | NR | NR | NR | NR | NR |
| Developmental delay | + | NA | NA | NR | + | + |
| Speech delay | + | NA | NA | NR | + | + |
| Pulmonary hypoplasia | − | + | + | NR | − | − |
| Cardiovascular | ||||||
| Translocation of arteries | − | − | + | NR | − | − |
| Mitral or aortic valve defects | − | + | + | NR | + | − |
| Septal defects | − | − | + | NR | + | − |
| Hypoplastic left heart | − | + | − | NR | − | − |
| Musculoskeletal | ||||||
| Anomalies of extremities | − | − | + | NR | + | + |
| Talipes or rocker bottom feet | − | + | + | NR | − | − |
| Urogenital | ||||||
| Renal anomalies | − | − | + | NR | + | − |
| Double uterus/vagina | NA | − | + | NA | − | − |
| Genital anomaly | − | − | − | + | − | − |
| Craniofacial | ||||||
| Facial dysmorphism | Mild | + | + | NR | + | NR |
| Cleft/high arched palate | − | + | + | NR | + | − |
| Skin | ||||||
| Café au lait | − | − | − | NR | + | − |
| Hirsutism | + | − | + | NR | − | − |
| Other | ||||||
| CDH | − | + | + | + | − | − |
| Single umbilical artery | NR | + | + | NR | NR | NR |
| Seizure | + | NA | NA | NR | + | − |
| Karyotype | 46,XY, t(15;22) (q26.1;q11.2) |
46,XX | 46,XX | 46,XY, t(1;14), inv(6),del(15)(q26) |
46,XX, r(15)(q26) | 46,XX, r(15)(q26) |
| Deletion size | 3.3 Mb | 8–11 Mb | 1–2 Mb | 6.3 Mb | 8–11 Mb | <3 Mb |
| UCSC | 89,197,342 –92,489,641 |
89,274,936 –99,149,459 |
95,883,860 –96,766,282 |
90,475,196 –97,234,642 |
89,275,717 or 92,238,363– |
89,224,936–a |
NR, not reported; NA, not applicable; +, present; −, absent.
a
Discontinuous deletion.