De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

Table 1 Main clinical findings of the 8 reported patients with complete trisomy 16p

	Magnelli,[2]	Yunis et al.,[3]	Dallapiccola et al.,[4]	Llamas et al.,[5]*	Jalal et al.,[6]	Léonard et al.,[7]	Rochat et al.,[8]	Our patient
Inheritance	Maternal b. t.	Maternal b. t.	De novo	De novo	Maternal b. t.	Maternal b. t.	Maternal b. t.	De novo
Gender	Male	Female	Female	Male	Female	Female	Male	Female
Living/deceased	Alive at 7 years	Alive at 5 months	Alive at 21 months	Alive at 6 months	Alive at 7 months	Died at 3 days	Alive at 26 years	Died at 5 months
Postnatal growth restriction	+	+	+		-	+	+	+
Facial dysmorphisms:
Round face		+	+	+	+	+	+	+
Short neck	+		+	+	-		-	+
Low set/dysmorphic ears	+	+	+	+	+	+	+	+
Micro-/retrognathia					+	+	+	+
Hypertelorism		+	+	+	+	+	+	+
Depressed nasal bridge		+	+	+	+		+	+
Anteverted nostrils		+	+	+	+		+
Narrow palpebral fissures		+		+	+		+	+
Upslanting palpepral fissures			-		+	+	+	+
Cleft palate	+				+	+	+	+
Excess of skin						+	+	+
Neurologic defects:
Structural CNS anomalies	-					+		+
Psychomotoric retardation/intellectual disability	+	+	+	+	+		+	+
Hand anomalies:
Proximally placed/hypoplastic/absent thumb	-	+	-			+	+	+
Overlapping fingers					+	-	+	+
Heart defect					+	-	-	+
Respiratory problems						+		+
Abdominal anomalies	+	+	+			+	+	-
Genitourinary malformations	+			+		+	+	+
Orthopedic anomalies of the lower extremities	+	+	+	+	-	+	+	-
(Symptoms of) neonatal hemochromatosis			-					+

+ denotes present, - absent, empty field = not reported; b. t. = balanced translocation; CNS = central nervous system; * from [6]; table modified from Rochat et al. [8].

ISSN: 1755-8166