Table 1 Comparison of present case to previously reported cases of 8p interstitial deletion
From: Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
Clinical characteristic | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | Present case |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Deletion 8p | p21-p23 | p11-p21 | p11.1-p21.1 | p11.22-p21.1 | p11.1-p21.1 | p11-p21 | p11.2-p21 | p21.1-p23.1 | p11.23-p21.3 | p11.23-p21.1 | p12-p22 | p11.2 | p12-p21.2 | p11.22-p21.2 | ||
Sex | M | F | F | F | M | M | F | M | M | M | F | M | M | M | F | F |
Psychomotor retardation | + | + | + | + | + | + | + | + | NA | + | + | + | + | – | + | + |
Growth retardation | + | + | + | + | + | + | NA | NA | NA | + | NA | + | – | + | + | + |
Microcephaly | – | + | – | – | + | + | + | + | NA | + | + | + | + | – | + | + |
Facial dysmorphism | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
Ocular abnormality | NA | NA | + | + | NA | + | NA | NA | NA | NA | – | + | + | – | + | NA |
Hypogonadism | NA | + | NA | NA | + | + | + | + | + | + | NA | + | + | + | + | NA |
Neuropathy | NA | NA | + | + | NA | NA | + | NA | NA | NA | NA | + | NA | – | + | NA |
Cardiac anomaly | – | – | NA | NA | NA | NA | – | – | NA | + | + | + | – | – | – | + |
Spherocytosis | NA | NA | + | + | + | + | + | + | – | NA | – | + | NA | + | – | – |