Table 1 Features presented in patients with 1q43-q44 deletion and duplication
Clinical features | Part or all 1q43-q44 deletion [23] | This paper (proband) | This paper (younger brother) | |
|---|---|---|---|---|
Microcephaly | 61/81 | + | 1/8 | – |
macrocephaly | – | – | 5/8 | + |
Intellectual disability | 63/81 | + | 7/8 | + |
Corpus colllosum abnormalities | 48/81 | + | – | – |
Seizures | 52/81 | + | 4/8 | – |
Round face | 16/81 | – | – | – |
Hypertelorism | 14/81 | – | 5/8 | – |
Prominent forhead | 10/81 | – | 6/8 | – |
Up or downward palpebral fissures | 18/81 | – | 4/8 | – |
Long philtrum | 18/81 | – | 3/8 | – |
Abnormal ear shape | 29/81 | – | 6/8 | – |
Caradiac abnormalities | 23/81 | – | 4/8 | – |
Abnormal hand or feet | 25/81 | – | 6/8 | – |
Micrognathia | 21/81 | – | 3/8 | – |
Hypotonia | 43/81 | – | 2/8 | – |