Table 1.

Frequency of somatic abnormalities in black South African patients homozygous for the FANCG deletion (c.637-643delTACCGCC) compared with FA patients in the European study


Site of abnormality

South African FANCG del, %

European FA-G, % (P)

European all FA, % (P)
Skin   85   70   70.4  
Radial ray   85   50 (.04)*  46.9 (.002)* 
Growth retardation   90   75   58.0 (.01)* 
Kidney   15   20   21.6  
Urogenital   5   5   11.6  
Cardiac   10   5   9.5  
Gastrointestinal   0   15   12.9  
CNS   0   0   4.6  
Deafness   5   5   10.3  
Eye
 
85
 
65
 
55.3 (.002)*
 

Site of abnormality

South African FANCG del, %

European FA-G, % (P)

European all FA, % (P)
Skin   85   70   70.4  
Radial ray   85   50 (.04)*  46.9 (.002)* 
Growth retardation   90   75   58.0 (.01)* 
Kidney   15   20   21.6  
Urogenital   5   5   11.6  
Cardiac   10   5   9.5  
Gastrointestinal   0   15   12.9  
CNS   0   0   4.6  
Deafness   5   5   10.3  
Eye
 
85
 
65
 
55.3 (.002)*
 

For South African FANCG del, n = 20; for European FA-G, n = 20; and for European all FA, n = 241.

CNS indicates central nervous system.

*

South African FA-G patients were compared with FA-G patients in the European study using Fisher exact test, and with all FA patients in the European study using the χ2 test

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