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

Table 1 Clinical features of deletion patients in this study and a survey of the literature.

PATIENT	1	2	3	4	5	6	7	# Lit.	References
PHENOTYPE
Craniofacial
Hypertelorism	+	+	+	-	+	+	+	14	[1-4, 6, 10, 12, 14, 16, 19, 25, 28, 45]
Low/rotated ears	+	+	+	-	+	+	+	24	[1-4, 6-8, 10-17, 19-22, 25, 28, 45]
Nasal bridge			+	-		+	+	14	[1, 2, 6, 7, 12, 13, 17, 19, 22, 25, 46]
Arched/cleft palate		+		-		+		15	[2, 3, 6, 8, 10-12, 15-17, 20, 25, 28]
Micrognathia			+	-		+	+	11	[4, 6, 11, 12, 14, 17, 20, 25]
Short neck			+	-		+	+	13	[1, 2, 6, 10-12, 15, 17, 20]
Ocular
Anterior Segment	+	+	+	+	+	+	+	17	[1-4, 6, 10, 14, 16, 18, 19, 21, 28, 45]
Microphthalmia		+	-	-		+		3	[4, 8, 15]
Nystagmus		+	-	+				3	[4, 15, 22]
Skeletal
Chest		-		-	+	-		8	[1, 4, 8, 11, 12, 22]
Spine		+	+	-	+	+	+	3	[8, 28, 46]
Hands			+	-		+	+	22	[1, 2, 4, 6-8, 10, 12, 13, 17, 19-22, 25, 45, 46]
Feet		+	+	-		+		17	[1, 2, 4, 8, 10, 12, 15, 17, 19, 20, 22, 25, 45, 46]
Joints			-			+		6	[6, 8, 17, 22, 25, 46]
Cardiac
VSD		-	+	-		-	-	6	[4, 12, 13, 15, 16, 22]
PDA		+		-	+	-	-	9	[12-14, 16, 20-22, 45]
PFO		+	+	-	+	-	-
ASD				-	+	-	-	6	[3, 4, 12, 19, 45]
Other		+	+					10	[1, 2, 4, 8, 10-12, 22, 25, 28]
Hydrocephaly	+	+	+	-	+	-	-	11	[2, 3, 6, 8, 12, 14, 17, 18, 20, 25, 45]
Renal		+		-		+		6	[1, 8, 12, 15, 20, 21]
Hearing Impairment		+	+			+	-	9	[1, 10, 17-19, 25, 45, 46]
Nipples		+	+	-			+	10	[1, 2, 6, 12, 17, 21, 46]
Genitalia		+	-	-		-		12	[1, 2, 7, 10-12, 16, 21, 22, 45, 46]
Finger/toenails			+	-	+			8	[1, 3, 7, 12, 15, 20, 25]
Eczema			+	-				1	[10]

'# Lit' is the number of patients with the phenotype of the 39 patients described in the literature. Blank fields indicate the phenotype was not specifically documented as present or absent

ISSN: 1471-2350