Table 1. Main clinical features in patients with partial trisomy 2p syndrome.

Main clinical features in 2p23-pter trisomy	Kochilas et al21	Gruchy et al20	This paper
			Case 1	Case 2	Case 3
Mental retardation	+ (Severe)	+ (Severe)	+ (Moderate)	+ (Severe)	+ (Moderate)
High forehead with frontal upsweep of hair	+	+	+	−	+
Hypertelorism	+	+	+	+	+
Short nose	+	+	−	−	−
Abnormal ear shape or position	+	+	+	+	+
Scoliosis/Kyphosis		+/−	−/+	+/+	−/+
Ocular abnormalities	Optical nerve atrophy		Myopia	Myopia esotropia	Esotropia
Heart defects	+	+	−	−	−
Hypoplastic external genitalia	−	−	−	−	−
Diaphragmatic hernia	−	−	−	−	−
Neural tube defects	−	−	−	−	−
Neuroblastoma	−	−	−	−	−