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Table 1 Clinical phenotype of syndromic patients with 16q deletion syndrome

From: Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

   Yamamoto et al.[1] Tsoutsou et al.[5] Goto et al.[13] DECIPHER 2150 DECIPHER 249502 Present case
Growth Small for dates +      +
Postnatal <3rd centile + + +    +
Microcephaly + + +    +
Central nervous system and development Psychomotor retardation + + mild + + +
Head Large anterior fontanelle + + +    
High forehead + +     
Diastasis cranial sutures -   +    
Dysmorphisms Broad flat nasal bridge + +    +  
Hypertelorism +      
Epicanthal fold   + +    +
Low set dysmorphic ears + +   +   +
Anomalies of palpebral fissures +     + +
Upward slanting palpebral fissures +   +    +
Micrognathia + +     +
Thorax and abdomen Congenital heart defects TOF      ASD + PFO
Ectopic anus -      +
Extremities Flexed fingers - +     
Bilateral simian creases + +     +
  Malposition of toes +     + +
  1. TOF Tetralogy of Fallot, ASD Atrial Septal Defect, PFO Patent Foramen Ovale.