Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report

Table 1 Summary of clinical features comparing live borns with trisomy 19q

	Present case	Hall et al[9]	Bhat et al[10]	Qorri et al[11]	Palomares et al[12]	Quack et al[13]	Zung et al[14]	Lugli et al[15]	Rim et al[16]
Sex	F	M	M	F	F	M	M	M	M
Age	18 mo	5 yr	18 mo	27 mo	15 mo	3 yr	14 yr	36 mo	5 yr
Dup (19)	Mos q13.2q13.32	Mos q13.11q13.2	q13.3q13.4	q13.1q13.3	q12q13.2	q11.05q13.2	q12q13.2	q12q13.2	19q13.32
Developmental delay	+	+	+	+	+	+	+	+	+
Growth retardation	+	-	+	-	-	-	-	-	+
Craniofacial findings	Microcephaly, esotropia	Macrocephaly	Microcephaly, strabismus	Slightly higher palate	Microcephaly, strabismus	Macrocephaly	Macrocephaly	-	Microcephaly
Heart	-	-	+	-	-	-	-	+	-
Genitourinary and gastrointestinal findings	Gallbladder agenesis	Bilateral urinary reflux	Bilateral inguinal hernia	-	-	-	-	-	-
Brain	Thinning of the corpus callosum, Bilateral ventricle dilation	Corpus callosumagenesis	-	-	Thinning of the corpus callosum and splenium	-	Cortical atrophy agenesis of the corpus callosum	+	-
Seizures	-	-	-	-	-	-	+	+	-
Skeletal	Hypotonia	-		-	-	-	-	-	-
Visual/auditive findings	+	-	-	-	-	-	-	-	-
Other	-	-	-	Crease between the 1st and 2nd toe	Hypotonia	Obese	Obese	-	-
Method	aCGH, FISH	aCGH	FISH	FISH	CGH	FISH	CGH	FISH, CGH	aCGH

+: Presence of the feature; -: Absence of the feature; aCGH: Array comparative genomic hybridization; FISH: Fluorescence in situ hybridization.