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

Table 2 Summary of clinical features of published cases of distal 14q trisomic segment derived from translocations and present case

	Present case	Mikelsaar et al. [6]	Carter et al. [8] case 4	Sutton et al. [9]
duplicated region	q32.13q32.33 21p pat	q24q32 ins(4;14)pat	q32.1qter 21p de novo	q32.3qter 22p mat
age at diagnosis	1y 5 m.	9 m	1y	3y
patient sex	male	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 nostrils	+
dysplastic/hypoplastic ear helices	-			+
short philtrum	-			-
thin upper lip with exaggerated Cupid’s bow	+	+
broad mouth	+			+
micrognathia	-	+		+
brachydacytly/clinodactyly	-
high palate	-	+
partial agenesis/hypoplasia of corpus callosum	+	-		+
congenital heart defect	+	-		+ VSD, ASD aortic conus
neural tube defect	-	-		+ myelomeningocele
diaphragmatic hernia	-
gastroesophageal reflux disease	+
hypotonia	+		+	+
umbilical hernia	+

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

ISSN: 1755-8166