The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

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

	1p36 deletion			1p36 duplication (Giannikou et al., 2012) [[5]]	1p36 triplication*
	Bursztejn et al., 2009 [[7]]	Case 1*	Case 2*	1p36 duplication (Giannikou et al., 2012) [[5]]	1p36 triplication*
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	_	+	_	_

ISSN: 1755-8166