Table 1.

CdC and Trisomy 5p features noted in patients with terminal deletion and inverted duplication of 5p

	Sreekantaiah et al. 1999 [8]	Wang et al. 2008 [13]	Vetro et al. 2008 [14]	Vera-Carbonell et al. 2009 [15]	Mosca et al. 2011 [16]	Izzo et al. 2012 [17]	Our patient 2013
Deletion	5p15.33p15.3	5p15.33p15.31	5p15.33p14.1	5p15.33p14.2	5p15.33p15.3	5p15.33	5p15.33p15.31	Deletion
Size	9.9 Mb	6.9 Mb	25 Mb	24.34 Mb	6.6 Mb	870 kb	6.3 Mb	Size
Duplication/inversion	5p15.3p14	5p15.31p14.3	5p14.1p11	5p14.2p13.1 with duplication to 5p12	5p15.31	5p15.33p13.1	5p15.31p13.2	Duplication/inversion
Size	10 Mb	13 Mb	20.3 Mb	20.72 Mb	2.3 Mb	40.5 Mb	29.7 Mb	Size
Heredity	De novo	De novo	De novo	De novo	De novo	de novo	De novo	Heredity
Age of the patient	4 years	6 years	prenatal	Newborn	Prenatal	Prenatal	Newborn	Age of the patient
Gender	F	M	M	F	M		F	Gender
Pregnancy/Birth	Normal	Premature	Termination	39 weeks	Termination	Termination	Premature	Pregnancy/Birth
Trisomy 5p features								Cri-du-chat features
Head								Head
Dolichocephaly			+				+
Macrocephaly							+
Hypertelorism			hypo-	+	+		+	Hypertelorism
Microretrognathia			+	+	+		+	Microretrognathia
Ears								Ears
Low-set ears			+	+		+	+	Low-set ears
		+					+	Preauricular skin tags
Dysplastic ears			+		+ (left)		+ (left)
Nose								Nose
Broad nasal bridge				+			+	Broad nasal bridge
Eyes								Eyes
Epicanthal folds							+	Epicanthal folds
Strabismus	+						+
Heart								Heart
CHD			+	+			+	CHD
Neurological								Neurological
Developmental delay	+	+					+	Developmental delay
Hypotonia		+		+			+	Hypotonia
Cry								Cry
	+			+			+	High-pitched cry
Others								Others
Feeding problems				+			+
Failure to thrive		+		+			+