BMC Medical Genetics

Table 1 Clinical presentation of the three patients with the chromosomes 4p16 deletion and 3p26.3 duplication

From: A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

	V:1	V:2	IV:13
Age	12.5	8.8	12
Gender	F	F	M
Growth Parameters	F	F	M
Height (cm/SDS^a)	109 /-5.9	110 /-5.3	128 /-0.3
Head circumference (cm/SDS^a)	43 /-8.8	42 /-8.0	48 /-4.2
Severe mental retardation	+	+	+
Facial features of WHS::
• High arched eyebrows	+	+	+
• Broad flat nasal bridge	+	+	+
• Prominent nasal tip	+	+	+
• Prominent eyes	+	+	+
• Ocular hypertelorism	+	+	+
• Short philtrum	+	+	+
• Downturned mouth	+	+	+
• Micrognathia	+	+	+
Seizures	-	+	+
Prenatal growth delay	+	+	+
Hypotonia	+	+	+

^a SDS standard deviation score (http://www.who.int/childgrowth/standards/en/); above (−2 SDS) normal average

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ISSN: 1471-2350

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