CASES WITH HETEROMORPHISMS
- Chromosome 20 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  20-
cen+/

1-1 to few

20cen+, also 20ph+
D20Z2 in 20p11.1
for D20Z1 in 20q11.1 no cen+ or cen- reported yet

none {1, page 77}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  20-
HHM-owncep/
1-1 to many

D20Z2 (stains 20p11.1)
gives always signals on 2p11.2q11.1

none {1}  
  20-
HHM-acro/

1-1
der(20)t(20;acro)(p13;p11.2) none {1; 31}  
  20-
HHM-acro/

2-1
der(20)t(20;acro)(q13.33;p11.2) none {1; 32}  
                 

References

Euchromatic

Euchromatic deletions

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

1-1 to 1-2
del(20)(p13) none
mild to moderate
{1; 77}  
  20-EHM-
del
p12.2p11.2/

1-1
del(20)(p12.2p11.2) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  20-EHM-
dup p12.2p12.1/

1-1
dup(20)(p12.2p12.1) none {1}  
  20-EHM-
dup p11.22q11.21/

1-1 to few
sSMC(20) none
{sSMC
page
}
 
  20-EHM-
dup q13.33qter/

1-1 to 1-3
der(22)(22pter22q13.33:
:20q13.3320q13.33:
:6p25.36pter)
none {72; 73}