Clinical features | Partial 8p deletion | Our patient | Partial 15q duplication |
---|---|---|---|
Mental retardation | + | ++ | + |
Post natal growth deficiency | + | - | + |
Microcephaly | + | - | + |
Speech delay | + | +++ | + |
Congenital heart disease | + | +++ | +\- |
Seizures | + | + | + |
Hypotonia | - | - | + |
Behavioural abnormalities | + | - | - |
Downslanted palpebral fissure | +/- | + | + |
Strabismus | - | ++ | + |
Ptosis | - | +++ | + |
Wide nasal base | + | ++ | + |
Short neck | + | ++ | + |
Bulbous nose | + | + | - |
Low set ears | - | + | + |
Puffy cheeks | + | + | + |
Midline crease in lower lip | - | + | + |
Thin upper lip | + | - | - |
Long philtrum | - | + | + |
High arched palate | - | + | + |
Micrognathia | + | + | + |
Pectus excavatum | - | - | + |
Scoliosis | - | - | + |
Depressed sternum | + | - | - |
Short fingers | + | + | + |
Inguinal and diaphragmatic hernia | + | - | - |
Widely spaced nipples | + | ++ | - |