CASES WITH HETEROMORPHISMS
- acrocentric chromosomes -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  acro-
ph+/
1-1 to 1-962
acro ph+ none {1, page 9}  
  acro-
p13+/
1-1 to 1-30
acro p13+ none {0; 1}  
  acro-
p12+/
1-1 to many
der(acro)(p11.2-p13x2)
NOR 2x
none {1}  
  acro-
p12+/
2-1 to several
der(acro)(p11.2-p13x3)
NOR 3x
none {1}  
  acro-
p12+/
3-1 to few
der(acro)(p11.2-p13x4)
NOR 4x
none {1}  
  acro-
p12+/
4-1 to serveral
der(acro)(p12amp)
NOR amplifed - one large painting like signal
none {0;1}  
  acro-
ph-/
1-1 to 1-34
acro ph- none {1, page 9}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  acro-
HHM-ownp-arm
/
1-1 to few
material was inserted in
4; 6; 7; 8; 11; 16; 22; Y
{1}  
  acro-
HHM-ownp-arm
/
2-1 to few
Material was translocated to
1; 2; 3; 4; 7; 10; 15; 17; 18; 20; 21; 22; X; Y
{1}  
                 

References

Euchromatic

Euchromatic deletions

NO REPORTS YET

 

Euchromatic duplications

NO REPORTS YET