tl_files/tiny_templates/Bilder TL/sSMC/kl-HM.jpg

 

- acrocentric chromosomes -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

As variants like ps+, pstk+ mentioned in ISCN are practically never reported in literature and each lab may have own standards to define these variants are not included here.

 
  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