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Table 3 Phenotype comparison of patients with distal duplication 7q

From: Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Anomalies

Rodriguez et al. q31.2-qter [22]

Scelsa et al. q32-qter [21]

Bartsch et al. q33-qter [23]

Bartsch et al. q33-qter [23]

Romain et al. q34-qter [24]

Romain et al. q34-qter [24]

Verma et al. q36-qter [25]

Present report q35-q36.3

Early death

   

Abortion

    

Low birth weight

 

+

 

Fetus

+

+

  

Major anomalies

Congenital heart defects

 

+

     

+

Genital-urinary defects

+

+

 

+

    

Skeletal anomalies

+

  

+

+

+

  

Strabismus

     

+

 

+

Failure to thrive

+

+

+

  

+

  

Developmental delay

Severe

Severe

Severe

 

Moderate

Severe

Moderate

Severe

Club feet

       

+

Hypotonia

 

+

+

  

+

 

+

Minor facial anomalies

Macrocephaly

+

+

+

 

+

 

+

 

Frontal bossing

+

+

+

+

  

+

 

Hypertelorism

+

+

   

+

  

Narrow palpebral fissures

 

+

      

Epicanthus

  

+

  

+

  

Down-slanting eyes

 

+

+

     

Small nose

 

+

+

+

+

+

  

Depressed nasal bridge

+

+

+

+

 

+

  

Micrognathia/Cleft palate

+

+

+

+

   

+

Malformed ears

 

+

      

Low-set ears

+

+

+

+

+

+

 

+

Short neck

+

+

+

+

 

+

 

+

  1. Original taken from Scelsa et al. [21] and modified for this article by the authors