14q32.3-qter trisomic segment: a case report and literature review

Table 1 Summary of clinical features from the literature review of 8 cases of distal 14q duplication (in situ) and present case

	Present case	Trunca et al. [3]	Orye et al. [4]	Carr et al. [5]	Masada et al. [7]	Chen et al. [10]	Thiel et al. [11]	Chen et al. [12]	Sgardioli et al. [13]
duplicated region	q32.13q32.3 paternal translocation	q31qter maternal inversion	q24q32	q31qter	32.11qter de novo duplication	q31.3q32.3 de novo duplication	q32.2qter de novo duplication	q31.3q32.12 de novo duplication	q31.3qter maternal inversion
age at diagnosis	1y 5 m	9 m	6 m	29 y	birth	45 days	8 y	PD, 6 m	20 days
patient sex	male	female	male	female	female	female	female	male	female
small at birth	+	+	-		-	-	+	-	+
MR or DD	+	+	+	+		+	+	-	+
microcephaly	+			+		+	-	-	+
hypothyroidism	+		-	-			+		+
prominent/high forehead	+	+	+		+	+	+	-	+
hypertelorism	+		+	+	-	+	+	-	+
down slanting palpebral fissures	-	-	+	-	-	+	-	-	+
broad and flat nasal bridge	+				+	-	+	-	+
bulbous nasal tip	+		+		+		+
anteverted nares	+		+		+		-		+
dysplastic/hypoplastic ear helices	-	+	-	+	+	+	+	-
short philtrum	-		-		-		+	-	+
thin upper lip with exaggerated Cupid’s bow	+	+	+	+	+	+	+	-	+
broad mouth	+			-	+	+	+	-	+
micrognathia	-	+	+		+	-	+	-
brachydacytly/clinodactyly	-			digital anomalies		+	+		hypoplastic fingers
high palate	-	+	-	-	+	-
partial agenesis/hypoplasia of corpus callosum	+		-	central cerebral atrophy		-	-	-
congenital heart defect	+		-	-	+ ASD	+ patent ductus arteriosus	-	-	+ ASD
neural tube defect	-	-	-			-	-	-
diaphragmatic hernia	-		-		+	-		-	+
gastroesophageal reflux disease	+			+				-	+
hypotonia	+	+	+			+		-	+
umbilical hernia	+		-		+	-		-	+

+: present; -: absent; MR mental retardation, DD developmental delay, ASD atrial septal defect

ISSN: 1755-8166