CASES WITH HETEROMORPHISMS
- Chromosome 8 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  08-
cen+/

1-1
8cen+
D8Z2
none {1, page 65}  
  08-
cen-/

1-1
8cen+
D8Z2
none {1, page 65}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  08-
HHM-acro/

1-1
ins(8;acro)(p11.1;acro) none {34}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  08-EHM-
del
pterp23.3~23.1/

1-1
del(8)(p23.3~23.1) none {1}  
  08-EHM-
del
pterp23.1/

1-1
del(8)(p23.1) none {1}  
  08-EHM-
del
q24.13q24.22/

1-1
del(8)(q24.13q24.22) none {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  08-EHM-
dup pterp23.3/

1-1 
dup(8)(p23.3p23.3) none {77}  
  08-EHM-
dup p23.3p22/

1-1 to 1-10
dup(8)(p23.3p22)
RP11-122N11; RP11-24D9
none {1}  
  08-EHM-
dup p23.3p22/

1-1 to 1-12
dup(8)(p23.3p22) mild to moderate {1}  
  08-EHM-
dup p11.2q11.23/

1-1 to few
sSMC(8) none {sSMC
page
}
 
  08-EHM-
dup
q21.2q2.12
/

1-1 to few
dup or amp(8)(q21.2q21.2) none {1}  
  08-EHM-
dup
8p23.3/
1-1
to multiple
2205a2 (cosmid) can produce add. signals on 1pter none
{5}