CASES WITH HETEROMORPHISMS
- Chromosome 12 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  03-
p11.1+/

1-1 to many
der(12)(p11.1amp)
best visible in C-or Q-banding or inverted DAPI-banding
none {1, pages 69-70}  
  03-
q11+/

1-1 to many
der(12)(q11amp)
best visible in C- or Q-banding or inverted DAPI-banding
none {1, pages 69-70}  
  12-
cen+/

1-1 to many
12cen+
D12Z3
none {1, pages 69-70}  
  12-
cen-/

1-1 to few
12cen-
D12Z3
none {1, pages 69-70}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  12-
HHM-acro/

1-1
der(12)t(12;acro)(p13.33;p11.2) none {1; 27}  
  12-
HHM-acro/

2-1
ins(12;acro)(p11.1;acro) none {1;36}  
  12-
HHM-Xp11.1q11.1/

1-1
ins(1;X)(q10;p11.1q11.1),
ins(12;X)(q10;p11.1q11.1),
ins(17;X)(q10;p11.1q11.1)
none {1, page 81; 60}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  12-EHM-
del
pterp13.33/

1-1
del(12)(p13.33) mild to moderate {1}  
  12-EHM-
del
pterp13.31/

1-1
del(12)(p13.31) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  12-EHM-
dup
p13.32p13.31/
1-1
dup(12)(p13.32p13.31) none {1}  
  12-EHM-
dup
p12.3p11.2/
1-1
dup(12)(p12.3p11.2) mild to moderate {1}  
  12-EHM-
dup
p13.33/
1-1
to multiple
496a11 (PAC) can produce add. signals on 6pter and 20qter- none
{5}  
  12-EHM-
dup

p12.1q12
/

1-1 to few
sSMC(12) none {sSMC
page
}
 
  12-EHM-
dup
q21.32q22/
1-1
dup(12)(q21.32q22) none {1}  
  12-EHM-
dup
q24.33q24.33/
1-1
dup(12)(q24.33q24.33) mild to moderate {1}