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

Table 3 Summary of clinical features from 4 cases of distal 14q duplication from decipher database ( https://decipher.sanger.ac.uk/ ) and present case

	Present case	2587	250364^a	286004	286145
duplicated region	q32.13q32.33 21p pat	q32.2q32.33 de novo	q31.2q32.33 de novo	q31.3q32.31 not reported	q32.12q32.33 de novo
age at diagnosis	1y 5 m.	not reported	1y	2y	2y
patient sex	male	not reported	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	+		+ ASD
neural tube defect	-
diaphragmatic hernia	-
gastroesophageal reflux disease	+
hypotonia	+			+	+
umbilical hernia	+

^athe database reports: abnormality of the face; +: present; -: absent; MR mental retardation, DD developmental delay, ASD atrial septal defect

ISSN: 1755-8166