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Table 1 Clinical features of the patients w ith 11q12.3 duplication/triplication

From: De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

   Present patient Tyson et al. (2005) Jehee et al. (2007)
    (Subject 2) (Patient 1)
    DECIPHER #253705  
Physical     
  short stature - + +
  microcephaly - + +
  scoliosis - + N A
  congenital heart defect - + N A
  fingers arachnodactyly camptodactyly (5th finger) brachydactyly
    brachydactyly (5th finger) clinodactyly (5th finger
     broad thumbs
Face     
  upslanting palpebral fissure - + -
  midface hypoplasia + NA -
  flat nasal bridge + NA -
  telecantus + NA -
  anteverted nare + NA -
  small nose + NA -
  long philtrum + NA -
  low-set and posteriorly rotated ears + NA -
  preauricular pit right + right
  high arched palate + NA NA
  thin lips + NA -
  micrognathia + NA -
Neurological     
  developmental delay + + +
  feeding difficulty + NA NA
  hypotonia + + NA
  hypersomnia + NA NA
  static encephalopathy - + NA
Examination     
  brain MRI abnormality - NA NA
  EEG abnormality - NA NA
  ABR abnormality - NA NA
  1. MRI magnetic resonance imaging; EEG electroencephalogram; ABR auditory brain response; NA not available.