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Table 1 Summary of phenotypes of isolated chromosome 21 deletion patients with overlapping regions with our patient

From: Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

 

Present patient

Lyle case 32

Lindstrand Pt 2

Lindstrand Pt 3

Roberson GM06918

Click

Shinawi Pt 3

DECIPHER 249224

# of abnormal phenotypes

intellectual disability

 

yes

yes

yes

yes

 

yes

 

5

low birth weight

yes

 

yes

yes

 

yes

  

4

broad or depressed

nasal bridge

 

yes

  

yes

yes

yes

 

4

short stature

yes

yes

  

yes

   

3

low anterior or posterior

hairline

 

yes

  

yes

yes

  

3

low set ears

yes

 

yes

  

yes

  

3

downward slanting

palpebral fissures

  

yes

 

yes

yes

  

3

hypertelorism

yes

 

yes

   

yes

 

3

congenital heart defect

  

yes

yes

 

yes

  

3

delayed speech and

language development

   

yes

   

yes

2

hypotonia

yes

yes

      

2

microcephaly

yes

yes

      

2

large ears

 

yes

   

yes

  

2

high or cleft palate

 

yes

  

yes

   

2

strabismus

     

yes

yes

 

2

feeding difficulties

  

yes

     

1

hypertonia

 

yes

      

1

distal limbs

abnormalities

   

yes

    

1

  1. Abnormal phenotypes are listed from the most common to least common ones
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Molecular Cytogenetics

ISSN: 1755-8166