CASES WITH HETEROMORPHISMS
- Chromosome 18 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  18-
p11.1+/

1-1 to many
der(18)(p11.1amp) i.e. 18ph+
best visible in C-, Q-banding or inverted DAPI-banding
none {1, pages 75-76}  
  18-
cen+/

1-1 to many
18cen+
D18Z1 in 18p11.1
none {1, pages 75-76}  
  18-
cen+/

2-1 to many
18cen+
D18Z2 in 18q11.1
may also be visible in C-, Q-banding or inverted DAPI-banding
none {1, pages 75-76}  
  18-
cen-/

1-1 to few
18cen+
D18Z1 in 18p11.1
(if available also possible with D18Z2)
(signal can also be absent)
none {1, pages 75-76}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  18-
HHM-owncep/
1-1
D18Z1 material was inserted in
1, 2, 9, 22
{1, page 81; 55-58}  
  18-
HHM-acro/
1-1
der(18)t(18;acro)(q23;p11.2) none {1, Color Plate 2, Vc}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  18-EHM-
del
pterp13.3/

1-1
del(18)(p13.3)
none {1}  
  18-EHM-
del
pterp13.3/

2-1 to 2-2
der(18)t(16;18)(q24.3;p13.3) none {77}  
  18-EHM-
del
pterp13.3/

3-1
der(18)t(17;18)(p13.3;p13.3) none {77}  
  18-EHM-
del
pterp11.31/

1-1
del(18)(p11.31) none {1}  
  18-EHM-
del
pterp11.3/

1-1
del(18)(p11.3) mild to moderate {1}  
  18-EHM-
del
pterp11.2/

1-1 to 1-2
del(18)(p11.2) mild to moderate {1}  
  18-EHM-
del
pterp11.23/

1-1
del(18)(p11.23) mild to moderate {1}  
  18-EHM-
del
pterp11.21/

1-1
del(18)(p11.21) mild to moderate {1}  
  18-EHM-
del
q21.1q21.1/

1-1
del(18)(q21.1q21.1) none {1}  
  18-EHM-
del
q2?1qter/

1-1
del(18)(q2?1) mild to moderate {1}  
  18-EHM-
del
q22.3qter/

1-1
del(18)(q22.3) mild to moderate {1}  
  18-EHM-
del
q23qter/

1-1
del(18)(q23) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  18-EHM-
dup p11.32q11.2/

1-1 to few
dup(18)(p11.32q11.2) mild to moderate {1}  
  18-EHM-
dup p11.32q13.3/

1-1
dup(18)(p11.32p13.3) none {1}  
  18-EHM-
dup p11.21q11.2/

1-1 to few
sSMC(18) none
{sSMC
page
}
 
  18-EHM-
dup q11.2q12.2/

1-1
dup(18)(q11.2q12.2) none {1}  
  18-EHM-
dup q21.31q22.2/

1-1
dup(18)(q21.31q22.2) none {1}  
  18-EHM-
dup q21.21q22/

1-1
dup(18)(q21.21q22) none {1}  
  18-EHM-
dup q21.33q23/

1-1
dup(18)(q21.33q23) none {1}