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Table 1 Phenotype of patients with "atypical" 22q11 distal deletions

From: A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

 

Garcia-Minaur18

LCR30–LCR4

~1.5 Mb

microsats/FISH

1 case (pat)

Our case

~1.4 Mb

oligo array

Ben Shachar8

LCR4–LCR5

~1.4 Mb

BAC arrays

4 Cases

Saitta10

LCR4–LCR6

~2.1 Mb

cosmid FISH

1 case

Ben Shachar8

LCR4–LCR6

~2.1 Mb

BAC arrays

2 Cases

Rauch7

LCR4–LCR6

~2.1 Mb

FISH/PCR

1 case

Mikhail9

LCR4–LCR6

1.55–1.92 Mb

BAC arrays

1 case

Cardiac defect

TOF

VSD+ASD

1/4 bicuspid aortic valve

VSD+ truncus arteriosus

1-/2 truncus arteriosus

VSD

-

bifid uvula

   

+

   

cleft palate

  

-

 

1/2

  

short stature

 

+

 

+

   

microcephaly

 

+

 

+

   

hypoplastic nasal alae

  

3/4

+

1/2

  

smooth philtrum

  

+

+

+

  

dev delay

  

3/4

 

+

  

arched eyebrows

  

2/4

 

+

 

+