Clinical findings | McLeod [2] | Kumar [13] | Sukumar [6] | Sukumar [6] | Sukumar [6] | Meng [4] | Narahara [3] | Bisgaard [19] | Tanteles [20] | Caselli [21] | Nowaczyk [14] | Nowaczyk [14] | Our Case | Total |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
6q breakpoints | q23-q25 | q23.3-24.2 | q24.2-q25.1 | q25.1-q25.3 | q25.1-q26 | q24.3-ter | q25-1-q25.3 | q25.1-25.3 | q24.3-25.2 | q24.3-q25.1 | q25.1-q25.3 | q25.1-q25.3 | q24.2-q25.2 | 13 |
Parent of origin | NA | father | NA | NA | NA | NA | NA | NA | NA | NA | father | father | father | 4/4 |
Sex (M:F) | M | F | M | M | M | M | M | F | M | F | M | F | M | 9/4 |
Age (yrs.months) | <0.1 | 3.0 | 1.0 | 17 | <0.1 | 0.4 | 0.7 | 6.6 | 2.6 | 8.2 | 1.3 | 1.4 | 1.-1 | - |
IUGR/low birth weight | + | + | + | - | - | + | + | - | - | - | + | + | + | 8/13 |
Postnatal growth failure | + | + | + | - | + | + | + | + | - | + | + | + | + | 11/13 |
Microcephaly | + | - | + | + | + | + | + | NA | - | - | - | - | - | 7/12 |
Prominent forehead | - | - | + | + | - | - | - | + | + | - | + | + | + | 7/12 |
Epicanthic folds | + | +/− | + | + | - | + | + | + | - | - | - | - | + | 8/13 |
Downslanting palpebral fissures | - | - | - | + | - | + | - | - | - | +/− | - | - | - | 4/13 |
Upslanting palpebral fissures | - | - | - | - | - | - | + | + | - | - | + | + | + | 5/13 |
Retinal, macular abnormalities | - | ND | - | - | + | ND | ND | ND | - | ND | - | - | - | 1/8 |
Large ears | - | NA | - | + | - | + | NA | - | - | - | - | - | + | 3/11 |
Malformed ears | - | NA | - | + | + | + | + | + | - | + | + | + | - | 8/12 |
Broad nasal bridge | - | + | + | - | - | + | + | - | + | - | - | - | + | 6/13 |
Micrognathia | + | - | - | + | - | + | + | - | - | - | - | - | - | 4/13 |
Abnormal philtrum | - | - | - | - | - | - | - | - | + | +/− | - | - | - | 2/13 |
Microstomia | + | - | NA | NA | NA | NA | + | - | + | - | - | - | - | 3/9 |
Thin lips | - | + | + | - | - | NA | NA | + | - | + | + | + | - | 6/11 |
Congenital heart defect | +°° | - | +§§ | - | - | +d | - | +’ | - | +§ | +° | +& | + | 8/13 |
Respiratory distress | - | - | + | - | + | + | NA | - | - | + | - | + | - | 5/12 |
Feeding problems | - | + | - | + | - | - | . | - | + | + | - | - | + | 5/12 |
Cryptorchidism | - | + | - | + | + | - | + | - | 4/8 | |||||
Genital hypoplasia | - | NA | NA | NA | - | NA | - | - | NA | NA | - | - | - | 0/7 |
Short neck | + | + | - | - | - | + | + | NA | - | - | - | - | - | 4/12 |
Chest and trunk asymmetry | - | NA | - | + | - | + | - | NA | - | NA | - | + | - | 3/10 |
Spine abnormalities | + | ND | - | - | - | ND | ND | ND | - | ND | - | - | - | 1/8 |
Foot abnormalities | - | NA | - | + | + | + | - | - | - | + | NA | NA | + | 5/10 |
Abnormal hands, fingers | + | NA | - | + | - | + | + | - | - | + | + | NA | + | 7/11 |
Joint laxity | - | NA | - | - | - | NA | NA | NA | + | NA | NA | NA | + | 2/6 |
Hypotonia | - | - | + | - | - | + | + | NA | + | NA | NA | + | + | 6/10 |
Skin abnormalities | + | NA | - | - | - | NA | NA | NA | + | NA | NA | NA | - | 2/6 |
Seizures | - | - | - | + | - | + | . | - | - | - | - | - | + | 3/13 |
MRI/TC abnormalities | ND | ND | ND | - | +a | +b | ND | ND | ND | - | - | - | +c | 3/7 |
Developmental delay | NA | - | + | + | NA | + | + | + | - | + | + | + | + | 9/11 |
Other | +1, 2 | +1 | +3 |