Table 4.
Common phenotypic features for cases with different deletions.
| Phenotypic features | Proximal | Central | Distal | |||
|---|---|---|---|---|---|---|
| This study (A-D) | Burnside 2015 (A-B, A-D) | This study (C-D) | Burnside 2015 (B-D, C-D) | This study (D-E) | Burnside 2015 (C-E, D-E, D-F) | |
| Cardiovascular defects | 7/7 (100%) | ~315/426 (74%) | 1/1 (100%) | 20/101 (20%) | 2/3 (66%) | 24/45 (53%) |
| Skeletal anomalies | 2/7 (29%) | >64/426 (15%) | – | 12/68 (18%) | 1/3 (33%) | 22/45 (49%) |
| Gastrointestinal anomalies | 2/7 (29%) | ~153/426 (36%) | 1/1 (100%) | 3/68 (4%) | 2/3 (66%) | 10/45 (22%) |
| Immune deficiency/recurrent infections | 5/7 (71%) | ~328/426 (77%) | 1/1 (100%) | 10/68 (15%) | 3/3 (100%) | 9/45 (20%) |
| Language delay | 5/6 (83%) | Common | – | 15/68 (22%) | 2/3 (66%) | 6/45 (13%) |
| Developmental delay | 4/6 (67%) | Common | 1/1 (100%) | 16/68 (24%) | 2/3 (66%) | 21/45 (47%) |
| Intellectual disability | 2/6 (33%) | ~298/426-383/426 (70-90%) | – | 17/68 (25%) | 1/3 (33%) | 18/45 (40%) |
| Psychiatric disorder | 2/6 (33%) | ~256/426 (60%) | – | 12/68 (18%) | 3/3 (100%) | 13/45 (29%) |
| Craniofacial anomalies | 6/7 (86%) | Common | 1/1 (100%) | 31/68 (46%) | 1/3 (33%) | 26/45 (58%) |
Notes: source: Burnside RD (2015) [1].