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Table 1 Genomic and clinical features of patients with MEF2C duplications compared to the present case

From: Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

  Genetic features Clinical features
Size (Mb) Start End Inheritance Ultrasound findings Neonatal feeding Microcephaly Global developmental delay Locomotor delay Speech delay Autistic trait Eye Facial features MRI Other
Present case No CNV (balanced translocation) de novo + + + spread eyebrows protruding ears with a fairly simple helix  
Le Muer et al. (2010) [18] 4.5 86,142,512 90,712,814 de novo NA NA + + + + NA   
Novara F. et al. (2013) [17], patient 1 5.5 85,598,295 91,182,469 de novo poor sucking + + + + hypermetropia eye asymmetry metopic prominence occipital asymmetry asymetric enlargement of lateral ventricles  
Novara F. et al. (2013) [17], patient 2 5.2 87,356,360 92,591,506 de novo IUGR poor sucking + + + wide and flat nasal root smooth filtrum microretrognathia clinodactyly of the 4th and 1st toes persistant aseptic fever
Cesaretti C. et al. (2016) [19] 4.6 86,129,664 90,762,803 de novo Tw1: mild ventriculomegaly, short CC
Tw2: heart bi-ventricular hypertrophy, short CC
  1. +: present; −: absent; CC: corpus callosum; CNV: copy number variation; IUGR: intrauterine growth retardation; Mb: mega base; MRI: magnetic resonance imaging; NA: not available or not relevant; Tw: twin