Table 1. Clinical features of 6q21–22 deletion.
| Patient (this study) | Patient 1 (Rosenfeld et al.4) | Patient 2 (Rosenfeld et al.4) | Patient 3 (Rosenfeld et al.4) | Patient 4 (Rosenfeld et al.4) | Patient 5 (Rosenfeld et al.4) | Patient 6 (Rosenfeld et al.4) | Patient 7 (Rosenfeld et al.4) | Patient 8 (Rosenfeld et al.4) | Patient from Chen et al.2 | Patient from Bzduch et al.1 | Patient from Park et al.3 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deletion (Mb or cytogenetic) | 109.9 ~123.2 | 111 ~124 | 113.4 ~121 | 114.3 ~118 | 106.6 ~114.5 | 104.3 ~121 | 113.2 ~115 | 114.2 ~115 | 116 ~129 | 113 ~123.2 | 6q22.2 →q23 | 6q22.2 →23.1 |
| Hyper- or hypo-telorism | Hyper | − | − | − | Hyper | − | Hyper | − | Hypo | Hyper | NA | NA |
| Long philtrum or wide nasal bridge | + | − | + | − | + | + | + | − | + | − | + | + |
| Cardiac abnormality | IAA, VSD | − | − | − | DORV, PA, VSD, ASD | PDA | − | − | − | VSD, PA | CoA (mild) | − |
| Microcephaly | − | + | − | − | + | + | − | + | + | + | + | + |
| Cranial MRI hypoplasia of the cerebellum | + | NA | +mild | − | + | + | − | + | − | NA | NA | NA |
| Dysplasia or hypoplasia of the CC | + | NA | +dysmorphic | +thick | +Partial ACC | + | − | +thick, shorten | − | NA | NA | NA |
| Intellectual disability | + | + | + | + | + | + | mild | + | + | NA | + | + |
Abbreviations: ACC, agenesis of the corpus callosum; ASD, atrial septal defect; CC, corpus callosum; CoA, coarctation of aorta; DORV, double outlet right ventricle; IAA, interrupted aortic arch; MRI, magnetic resonance imaging; NA, not available; PA, pulmonary atresia; PDA, patent ductus arteriosus; VSD, ventricular septal defect.