Table 1 Clinical features of patients with 6q27 deletions on our case compared with those previously reported in the literature
Sirisha et al., | Sirisha et al., | Dupe et al., | Rigon et al., | Striano et al., | Eash et al., | Rooms et al. | ||
|---|---|---|---|---|---|---|---|---|
Patient 6 | Patient 7 | Patient 4 | Patient 1 | Patient 3 | Patient 1 | |||
Patient No. | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8* |
Deletion size (Mb) | 2.2 | 1.7 | 2.2 | 2.3 | 3.1 | 0.4 | 1.2 | 1.3 |
Age at diagnosis | 4 months | 30 months | Newborn | 17 years | 4 years | 8 years | 18 years | 27 years |
Sex | F | F | F | F | F | M | M | F |
Facial dysmorphism | ||||||||
Hypertelorism | NA | + | NA | _ | + | _ | NA | + |
Broad nasal bridge | NA | + | NA | + | _ | NA | NA | + |
Ear anomalies | NA | + | NA | _ | + | + | NA | _ |
Midface hypoplasia | NA | _ | NA | + | _ | _ | NA | _ |
Long philtrum | NA | _ | NA | _ | _ | _ | NA | _ |
Thin upper lip | NA | _ | NA | + | _ | _ | + | _ |
Palatal abnormality | NA | _ | NA | _ | _ | _ | + | _ |
Neurodevelopment | ||||||||
Developmental delay | + | + | NA | + | + | + | + | + |
Epilepsy | + | _ | NA | _ | + | + | + | _ |
Structural brain anomalies/abnormal | + | + | + | + | + | + | + | + |
MRI | ||||||||
Periventricular nodular heterotopia | NA | NA | NA | + | NA | NA | NA | _ |
Polymicrogyria | NA | NA | NA | NA | NA | NA | NA | _ |
Corpus callosum anomalies | + | + | NA | _ | _ | + | NA | + |
Hydrocephalus | + | _ | + | _ | _ | + | NA | _ |
Vertebral or spinal cord malformation | _ | _ | _ | _ | _ | + | NA | + |
Hypotonia | + | + | _ | _ | _ | _ | _ | + |
Head size | MAC | MIC | NA | NA | NA | NA | MIC | NA |
Learning difficulties | + | + | NA | + | + | + | + | _ |
Inheritance | De novo | Not maternal | De novo | NA | De novo | De novo | Maternal | De novo |