CASES WITH HETEROMORPHISMS
- X-chromosome -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  0X-
cen+/

1-1 to few
Xcen+
DXZ1
none {1, pages 79-80}  
  0X-
cen-/

1-1 to few
Xcen-
DXZ1
(complete absence of FISH signal reported)
none {1, pages 79-80}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0X-
HHM-owncep/
1-1
D1Z5 material was inserted in
19, 1/12/17
{1, page 81; 59; 60}  
  0X-
HHM-1q12/

1-1
ins(X;1)(q21;q12q12) none {1; 47}  
  0X-
HHM-acro/

1-1
mos 45,X/
46,X,der(X)t(X;acro)
(p2?2;p11.2)
Turner {10}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0X-EHM-
del
p22.33/

1-1 to few
del(X)(p22.33)
CY29 (cosmid)
(in {75} probe not specified)
none {5; 74; 75}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0X-EHM-
dup
p22.33/
1-1

dup(X)(p22.33)
CY29 (cosmid)
none
{5}