From: The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes
 | 1p36 deletion | 1p36 duplication (Giannikou et al., 2012) [[5]] | 1p36 triplication* | ||
---|---|---|---|---|---|
Bursztejn et al., 2009 [[7]] | Case 1* | Case 2* | |||
Mental retardation | 52/60 | + | + | + | + |
Developmental delay | 60/60 | + | + | + | + |
Speech defects | 60/60 | + | + | + | + |
Behavioral problems | 28/60 | + | + | + | + |
Hypotonia | ? | + | + | + | + |
Feeding difficulty | ? | + | + | + | + |
Microbrachycephaly | 52/60 | + | + | ? | + |
Low hairline | ? | + | + | ? | + |
Prominent forehead | ? | + | + | ? | + |
Strabismus | ? | + | _ | ? | + |
Hypertelorism | ? | + | + | ? | + |
Low-set ears | ? | + | + | + | + |
Ear malformations | ? | _ | + | + | + |
Broad nasal bridge | 60/60 | + | + | + | + |
Long philtrum | 60/60 | _ | _ | + | + |
Thick lips | ? | _ | _ | _ | + |
Pointed chin | 60/60 | + | + | + | _ |
Wide mouth | ? | _ | _ | _ | + |
Prominent incisors | ? | _ | _ | + | + |
Short feet | 48/60 | + | _ | + | + |
Hearing loss | 52/60 | _ | _ | _ | _ |
Seizure | 26/60 | + | _ | + | + |
Obesity | ? | + | + | + | _ |
Skeletal anomalies | 13/32 | _ | + | _ | _ |