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. 2011 Jan 26;19(5):534–539. doi: 10.1038/ejhg.2010.215

Table 1. Summary of the clinical features presented in six patients with deletion of 12q14.

  Case 1 Case 2 Case 3 Case 4 Case 5 Case 6
Sex F F M M M M
Birth weight (kg) 2 kg at 36 weeks 1.9 at 37+4 weeks 3.6 kg at 39 weeks 1.9 at 36 weeks 2.9 at 36 weeks 2.86 at 40 weeks
Development Moderate delay Severe delay Moderate delay Severe delay Moderate delay Moderate delay
Behaviour Pleasant and friendly personality Autism   Autism    
Feeding Poor feeder gastrointestinal reflux Poor feeder gastrostomy fed Poor feeder Pyloric stenosis Poor feeder Normal feeding
Malformations ?patent ductus Atrial septal defect Pulmonary stenosis and pectus excavatum   Atrial septal defect Sub-aortic stenosis
Eyes Convergent squint Convergent squint       Hypermetropia
Speech Expressive speech delay No speech No speech age 6 years Single words aged 6 years Marked speech delay Speech delay