From: Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6
Present case | Zhang et al. [[10]] | |
---|---|---|
Psychomotor delay | + | + |
Microcephaly | - | + |
Hydrocephalus | - | + |
CNS malformation | - | + |
Epilepsy | - | + |
Cerebral ventriculomegaly | + | + |
Eye abnormalities | - | + |
Congenital heart defect | + | - |
Hypotonia | - | + |
Short/webbed neck | - | + |
Prominent forehead | + | + |
Flat/broad nasal bridge | - | + |
Prominent lips | + | - |
Protruding tongue | + | - |
Malformed/low-set ears | + | + |
Hearing loss | - | + |
Wide spaced nipples | - | + |
Growth failure | - | + |