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Table 1 Phenotypic characteristics of 52 cases with 22q11.2 variations

From: Identifying of 22q11.2 variations in Chinese patients with development delay

Phenotypic characteristics 22q11.2 Deletions (n = 37) 22q11.2 Duplications (n = 15)
A-D (n/26) A-B (n/3) D-E (n/3) C-D (n/2) B-D (n/1) E–F (n/1) B-F (n/1) A-D (n/8) A-B (n/1) C-D (n/1) B-D (n/2) E–F (n/1) B-F (n/1) E–H (n/1)
Development delay 10   1   1 1 1 2     1 1  
Language delay 9 3 1 1    1 3    2 1 1  
Craniofacial anomalies 8 1       1       1
Heart defect 6 1       1       1
Psychiatric/Behavior problems 3           2    
Epilepsy 3 1   1     2       
Periventricular leukomalacia 3        2       
Growth delay 2   1   1   1        
Intellectual disability 2   1 1     1       
Hearing impairment 2        1      1  
Cryptorchidism 2              
Gastroesophageal reflux 1        1       1
Extracerebral space widen 1        1       
Limb pain 1              
Autism           1     
Corpus callosum thin         1       
Hiatus hernia         1       
Cerebellar tonsil hernia         1       
Hypotonia         1       
Pulmonary hypertension         1       
Involuntary movement         1       
Headache          1      
Congenital cataract      1          
Hyperbilirubinemia               1