Duplication 9p and their implication to phenotype

BMC Medical Genetics

Table 2 Clinical features and chromosome breakpoints in patients with p art ial and complete 9p duplication defined by FISH or array

Features	Authors
	1	2	3	4	5	6	7	8	9	10	11	12	13	P1	P2	P3	P4	P5
9p duplication	9p22 → p24	9p22 → p24	9p22 → p24	9p22 → p24	9p22 → p24	9p24 → 9p21	9p24 → p12	9p24 → q13	9p22.3 → 9p23	9p24 → 9q21	9p21.3 → 9p13.2	9p24.3 → 9p13.1	9p24.3 → p13.1	9p24.3 → p11.2	9p24.3 → p13.1	9p24.3 → p13.1 *del9q13 → q21.13	9p24.3 → p13 *del18p11.32p11.31	9p24.3 → p13 *del18p11.32p11.31
	9 y (girl) P1	44 y (father) P2	9 m (boy)	19 m (girl)	14 y (boy)	6 y (boy)	10 m (boy)	1 m (girl)	6 y (girl)	At birth (girl)	12 y (girl)	15 m	13 y (girl)	14 y (boy)	6 y (girl)	6 y (girl)	17 y (boy)	6y (girl)
Microcephaly			+	+	+		+	+					+	+	-	-	-	-
Brachycephaly							+	+							+	+	+
Epicanthal folds			+		+		+						+			+	+	+
Micrognathia					+	+	+								+		-	-
Downslanting palpebral fissures		+	+	+		+		+						+		+	+	+
Prominent/large nose	+	+	+	+		+								+	+	+	+	+
Bulbous nasal tip						+	+	+			+		+	+		+	+	+
Deep set eyes	+			+	+	+	+					+				+	-	-
Hypertelorism				+			+	+							+	+	+	+
Low set ears		+	+	+	+	+		+		-			+		+	+	+	+
Malformed ears				+	+					-					+	+
Downturned corners of the mouth			+		+		+	+		-			+				+	+
Thin upper lip	+	+				+	+					+					-	-
Short neck		+		+	+	+	+	+			+	+				+	+	+
Fifth finger short			+	-												+
Nail hypoplasia			-	-	+		+			+				+		+
Clinodactyly	+	+		-	+	+		+		+	+	+		+	+	+	+	+
Brachydactyly	+	+											+			+
Neuropsychomotor development delay	+		+	+	+		+	+			+	+	+	+	+	+	+	+
Hypotonia			+	+										+		+	+	+
Growth delay			+		+						+	+		+		+	+
Small penis					+									+
Speech delay					+	+					+	+	+			+	+	+

(1-2) Haddad et al. 1996 [9]; (3) Fujimoto et al. 1998 [7]; (4) Guanciali-Franchi et al. 2000 [12]; (5) de Pater et al. 2002 [4]; (6) Sanlaville et al. 1999 [31]; (7) Tsezou et al. 2000 [3]; (8) Teraoka et al. 2001 [8]; (9) Bonaglia et al. 2002 [17]; (10) Morrissette et al. 2003 [30]; (11) Zou et al. 2009 [15]; (12) Abu-Amero et al. 2010 [16]; (13) Chen et al. 2011 [18]; (14-17) Our patients (P1, P2, P3, P4 and P5); (+) present; (-) absent; ( ) not mentioned in the paper * (additional deletion).

ISSN: 1471-2350