tl_files/tiny_templates/Bilder TL/sSMC/kl-HM.jpg

 

- Chromosome 7 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centromeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  07-
cen+/

1-1 to few
7cen+
D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1)
none {1, page 64}  
  07-
cen-/

1-1 to few
7cen-
D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1)
none {1, page 64}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  07-
HHM-acro/
1-1
ins(7;acro)(p13;acro) none {1; 9}  
  07-
HHM-acro/
2-1
ins(7;acro)(q21.3~22.1;acro) none {1; 25}  
  07-
HHM-Yq12/

1-1
mos 45,X,der(7)t(Y;7)(p11.1~11.2;p22.3)/45,X Turner {11}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  07-EHM-
del
pterp22/

1-1
del(7)(p22) none {1}  
  07-EHM-
del
q36.3qter/

1-1
der(7)t(2;7)(p25.2;q36.3)
size in 2p: 6.1 Mb
size in 7q: 1.1 Mb
minor clinical signs {0
46677}
 
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  07-EHM-
dup pterp22.3/

1-1
dup(7pterp22.3) none {1}  
  07-EHM-
dup p13p12.2/

1-1 to 1-3
dup(7)(p13p12.2) mild to moderate {1}  
  07-EHM-
dup p11.2q11.22/

1-1 to few
sSMC(7) none
{sSMC
page
}
 
  07-EHM-
dup q32q36.1/

1-1
dup(7)(q32q36.1) mild to moderate {1}