Table 1 Clinical features of reported patients with 8q12 microdeletions encompassing the CHD7 gene, including the present case
From: CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
Clinical feature | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
Sex | F | F | F | M | M | M | M | F | M |
Ocular coloboma | + | + | + | + | + | + | - | - | + |
Choanal atresia | + | - | - | - | - | - | - | - | - |
External ear anomaly | + | + | + | - | + | + | + | + | + |
Hearing deficit | + | + | - | + | nr | + | - | - | + |
Cleft lip/palate | - | - | - | - | - | + | - | - | - |
Larynx malformation | - | - | - | - | - | + | - | - | - |
Facial palsy | + | - | - | - | + | + | - | - | + |
Congenital heart defect | + | + | + | + | + | + | + | + | + |
Genital anomaly | nr | - | + | + | + | + | - | - | + |
Urinary malformation | - | - | - | - | - | + | - | - | - |
Temporal bone malformation | - | + | nr | nr | - | + | - | - | + |
Growth deficiency | - | + | + | nr | - | + | - | - | + |
Developmental delay | + | + | + | nr | nr | + | - | - | + |
Phenotype | C | C | C | C | C | C | No C | No C | C |
Genetic imbalance | t(6;8)(6p8p;6q8q) | Del8q12 | Del8q11.2-q13 | Del ex1 | Del ex4 | Del CHD7 | Del8q12 | Del8q12.1q12.3 | Del RAB2-5’UTR/ex1 CHD7 |