16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Table 2 Clinical manifestations of the patients with partial 16p duplication

Clinical features	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17	18	19	20	21	22	23	24	25	26	27	28
	Patient 1[24]	Patient 9[25]	[26]	Patient 2[24]	Patient 10[25]	Patient 11[25]	Patient 12[25]	Patient 8[25]	Patient 3[24]	Patient 4[24]	Patient 6[25]	Patient 2[25]	Patient 5[24]	[27]	Patient 5[25]	[28]	Patient 6[24]	Patient 3[25]	[29]	Patient 7[25]	Patient 4[25]	Patient 1[25]	[30]	Patient 7[24]	Patient 8[24]	Patient 9[24]	[31]	Present case
Mental retardation	+	+	+	+	+	+	-	+		+	+	+	+	+	+	+	+	+	+	+	+	-	+	+	+	+	+
Eye anomalies	+		+	+		+	+	+	+	+	+	+	-	+	+	+	+	+	+	+	+	+	+	+	+	+		+
Ptosis	+		+	-		+	-	-	-	+	-	+	-	+	-	+	+	+	-	-	+	-	+	-	+	+		+
Upslanting palpebral fissures	+		+	+		+	+	+	+	+	-	+	-	+	+	-	-	-	+	+	-	+	+	+	+	+		+
Short palpebral fissures	+		+	+		+	-	-	+	+	-	-	-	+	+	+	+	-	+	-	+	+	+	+	+	+		+
Nose anomalies	-	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	-	+	-	-	-		+	+	+	+	-
Cleft palate	-	-	-	-	-	-	-	-	+	-	-	-	+	+	-		-	-	-	-	-	-		-	+	+	+	+
Ears anomalies	-	+	+	+	+	+	+	+	+		+	+	+	+	+	+	+	-	+	+	+	-	+	+	+	+	+	-
Microcephaly	+	+	+	+	-	+	+	-	+	+	-		-	+			+					-		+	+	+	+	-
Long face/round face		-												+					+		+					+	+	-
Micrognathia	-	-	+	-	-	+	-	-	+	-	-	-	+		-		-	+		+	-	-		-	+	+	+	+
Bilateral inguinal hernia	+	-		+		-	+	+	-	-	-	+	-		-		-	-		-	-	-		-	+	-		+
Hand anomalies	+	+	+	+	+	+	+	+	+	+		+	+	+	+	+	+	+	+	+	+	+	-	+	+	+		+
Foot abnormality	+	-	+	+				+	-	+		+	-	+	+	+	+	+	-	+	+	+	+	+	+	-	+	+
Congenital heart disease	-	-	+	+	+	+		-	-	-	+	-	-	+		+	-	-	-	-	-	+		-	-	-	-	-
Break point (Mb)	3.7-3.9	3.6-3.9	3.7-4.1	3.6-4.0	3.6-4.0	3.6-4.2	2.6-4.5	3.5-4.7	3.7-4.9	2.8-4.1	3.0-4.3	2.6-3.9	3.7-5.2	2.6-4.7	2.9-5.0	2.6-5.0	2.6-5.0	2.8-5.3	2.7-5.2	3.5-6.1	2.9-5.7	1.8-4.6	0.9-3.8	0.9-3.9	1.3-4.8	1.3-4.8	0-8.6	0-11.8
Size (Mb)	0.24	0.35	0.41	0.47	0.5	0.6	0.9	1.2	1.2	1.3	1.3	1.3	1.52	2.1	2.1	2.37	2.4	2.5	2.5	2.6	2.8	2.8	2.9	3.04	3.5	3.5	8.6	11.8

ISSN: 1755-8166