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Table 1 Features presented in patients with 1p36 micro-rearrangement

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 _ + _ _
  1. *: presented in this study.
  2. "+" : present; "_": absent; "?": uncertain.