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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
 Height (cm/SDSa) 109 /-5.9 110 /-5.3 128 /-0.3
 Head circumference (cm/SDSa) 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 + + +
  1. a SDS standard deviation score (http://www.who.int/childgrowth/standards/en/); above (−2 SDS) normal average