Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

Table 2 Clinical features of patients with characterized terminal deletions.

	Patients with Characterized Terminal Deletions
	1	2	3	4	5	6	7	A	B	C	D	E	F	G	H	I	J	K	L	Frequency observed/reported
Phenotypes
Anterior Segment	+	+	+	+	+	+	+	+	+	-	+	+	+	+	+	-	+	+	+	17/19 (89%)
Hypertelorism	+	+	+	-	+	+	+	+		+					+	+	-	+	+	12/14 (86%)
Hearing Impairment		+	+		+	+	-		+	+	+	+	+	+	+	+	+	+		14/15 (93%)
Short Neck			+	-		+	+			-					+	-	-	-		4/9 (44%)
Clinodactyly/ Syndactyly			+	-		+				+					+	-	-			4/8 (50%)
Brain Malformation	+	+	+	-	+	-	-		+	+					-	+	-	-	+	8/14 (57%)
Heart Malformation		+	+	-	+	-	-	+	+	+					+	-	-	+	+	9/14 (64%)
Renal Malformation		+		-		+			+	-					-	-	-	-	-	3/10 (30%)

Patients A-L are defined in Figure 2 legend. Blank fields indicate the phenotype was not specifically documented as present or absent.

ISSN: 1471-2350