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Table 2 Observed clinical features in atypical deletions of the LCR intervals in 22q11.2.

From: A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

LCR interval Rauch 2005 [19] Ben-Shachar 2008 [23] García-Miñaur 2002 [18] Kurahashi 1996 [70] D'Angelo 2007 [21] Patient 1
  - ctCHD - ctCHD      
A-B - typical VCFS - typical VCFS      
   - Atypical CHD   - ctCHD    
B-C   - Mild dysmorphism   - Mild facial dysmorphism    
   - DD   - Father normal    
   - Learning disabilities    - CTAFS: TOF, PA - Mild facial features - Atypical CHD
C-D      - Facial dysmorphism - Neurodevelopmental, behavioural and psychiatric spectrum disorder - Atypical facial features
       - Mother with depressive disorder  
    - Prematurity     
  - Mild DD - Mild DD      
    - Prenatal and postnatal GR     
  - Choanal atresia       
    - Learning difficulties and/or DD     
D-E - Atypical CHD   - Specific skeletal abnormalities     
    - Characteristic facial dysmorphism     
    - Higher risk for TA     
E-F        
  1. CTAFS: conotruncal anomaly face syndrome; ctCHD: conotruncal congenital heart defect; DD: developmental delay; GR: growth retardation; PA: pulmonary atresia; TA: truncus arteriosus; TOF: tetralogy of Fallot; VCFS: Velocardiofacial syndrome.