CASES WITH HETEROMORPHISMS
- Y-chromosome -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

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

1-1 to few
Ycen+
DYZ3
none {1, page 80}  
  0Y-
cen-/

1-1 to few
Ycen-
DYZ3
none {1, page 80}  
  0Y-
inv/

1-1 to many
inv(Y)(p11.2q11.2) none {1, page 80}  
  0Y-
q12/
1-1 to many

Yqh+
DYZ1

none {1, page 10}  
  0Y-
q12/

2-1 to many
Yqh-
DYZ1
0.09% - 0.78% in generalmale population
none {1, page 10; 68}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0Y-
HHM-own q12
1-1 to few to many
DYZ1 was inserted in / added to
1; 7; 11; 13; 14; 15; 17; 21; 22
 
  0Y-
HHM-acro/

1-1 to many
der(Y)t(Y;acro)(q12;p11.2) none {1, page 48}  
  0Y-
HHM-acro/

2-1
der(Y)t(Y;acro)(p11.32;p11.2) none {1; 12}  
  0Y-
HHM-acro/

3-1
ins(Y;acro)(q?;acro) none {1; 37}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0Y-EHM-
del
p11.32/

1-1 to few
del(Y)(p11.32)
CY29 (cosmid)
none {5}  
  0Y-EHM-
del
p11.32/

1-1
del(Y)(p11.32)
reduction of signal size
none {77}  
  0Y-EHM-
del
q12qter/

1-1 to 1-3
del(Y)(q12)
only subtelomere
none {77}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  0Y-EHM-
dup
p11.32/
1-1

dup(Y)(p11.32)
CY29 (cosmid)
none
{5}