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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

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