Table 1 Clinical characteristics of previously reported cases with overlapping duplications
Case ID | Our case 1 | Our case 2 | DECIPHER 323264 | DECIPHER 258333 | Mimouchi-Bloch A, et al. (ref) | DECIPHER 1570 | DECIPHER 265052 |
|---|---|---|---|---|---|---|---|
Coordinates of duplications (hg19) | Chr2:60113626_62111114 | Chr2:60308869_62368583 | Chr2:60236241–61,848,845 | Chr2:59938734–62,025,519 | Chr2:60150427_61816209 | Chr2:60648296–61,568,645 | Chr2:60541781–61,952,880 |
Chromosome band | 2p16.1p15 | 2p16.1p15 | 2p16.1p15 | 2p16.1p15 | 2p16.1p15 | 2p16.1p15 | 2p16.1p15 |
Gender* | M, 3y | M, 5y | F, 15y | M | M, 5y | F, 3y | F, 7y |
Developmental delay | +** | + | + | + | + | + | + |
Speech delay | + | + | + | + | + | + | + |
Intellectual disability | + | + | + | + | mild | + | - |
Autism | - | - | - | - | - (ADHD) | - | - |
Craniofaci al signs | Macrocephaly | Macrocephaly | |||||
Forehead | Receding forehead | - | Frontal bossing | - | |||
Eyes | Epicanthal folds Straight eyelashes, sparse eyebrows | Upslanted palpebral fissures | - | Puffy eyelids | Blepharophimosis Upslanted palpebral fissures | - - | |
Nose | Broad and high nasal bridge | Concave nasal bridge | - | Wide nasal bridge | - | ||
Ears | - | Right earlobe | |||||
Mouth | Pronounced philtrum Pronounced Cupid’s bow | Pronounced philtrum Pronounced Cupid’s bow | - | Small ears | sinus Broad philturm | Low-set ears Thin upper | |
and lower lip vermilion Micrognathia | |||||||
Other Cardiovascular | – | Atrial septum defect | – | – | – | Atrial septum defect | – |
Hypotonia | + | + | - | + | - | - | - |
Other | Clinodactyly of the 5th finger, bilaterally 2nd-3rd toes syndactyly | Clinodactyly of the 5th finger | Epilepsy Obesity | Recurrent infections Abnormality of erythrocytes Small hands | Visual impairment | Short stature Short palm Tapered fingers 2nd-3rd toe syndactyly | Obesity Arthritis Precocious puberty |