CASES WITH HETEROMORPHISMS
- Chromosome 13 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  13-
p13-p12/
1-1 to several
dup(13)(p13p12) none {1, page 42}  
  13-
p13+/
1-1 to several
der(13)(p13amp) none {1}  
  13-
p13-/
1-1 to few
del(13)(p13) or del(13)(p13p13) none {1, pages 51-52}  
  13-
p12+/

1-1 to 1-2
der(13)(p12amp)
NOR
none {1}  
  for further NOR-region variants principally possible
but not specified for 13-15 or 21-22 yet see acro-chrs.
 
  13-
p12-/

1-1 to few

del(13)(p12) or del(13)(p12p12)
NOR

none {1, pages 51-52}  
  13-
p11.2+/

1-1 to several
der(13)(p11.2amp) none {1}  
  13-
p11.2-/

1-1 to few
del(13)(p11.2) or del(13)(p11.2p11.2) none {1, pages 51-52}  
  13-
cen+/

1-1 to many
13cen+
D13Z1
none {1, pages 70-71}  
  13-
cen-/

1-1 to many
13cen-
D13Z1
is present in ~0.12% of general population
(FISH-signal can be completely absent)
none {1, pages 70-71}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  13-
HHM-owncep/
1-1 to many

D13Z1 = D21Z1 gives always signals 21p11.1q11.1

{1}  
  13-
HHM-owncep/
2-1
D13Z1/D21Z1 was inserted in / translocated to 14; 15; 22 {1, page 81; 8; 48-54}  
  13-
HHM-15p11.2/
1-1 - many
der(13)t(13;15)(p11.1;p11.1)
D15Z1 signal on one #13
none {1, pages 45-46}  
  13-
HHM-Yq12/

1-1
der(13)t(Y;13)(q12;p11.2) in 1/23 = 4% of cases with t(Y;acro) none {3; 1, page 47}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  13-EHM-
del
q14q14/

1-1
del(13)(q14q14) none {1}  
  13-EHM-
del
q14.1q21.3/

1-1
del(13)(q14.1q21.3) none {1}  
  13-EHM-
del
q14.1q22.1/

1-1
del(13)(q14.3q21.2;q22.1q22.1) mild to moderate {1}  
  13-EHM-
del
q21q21/

1-1
del13)(q21q21) none {1}  
  13-EHM-
del
q21.1q21.31/

1-1
del(13)(q21.1q21.31) none {1}  
  13-EHM-
del
q21.1q21.33/

1-1
del(13)(q21.1q21.33) none {1}  
  13-EHM-
del
q31.1q31.3/

1-1
del(13)(q31.1q31.1) mild to moderate {1}  
  13-EHM-
del
q34qter/

1-1
del(13)(q34) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  13-EHM-
dup pterq12.11/

1-1 to few
sSMC(13) none
{sSMC
page
}
 
  13-EHM-
dup q13q14.3/

1-1
dup(13)(q13q14.3) none {1}  
  13-EHM-
dup q14.2q21.1/

1-1
dup(13)(q14.2q21.1) none {1}  
  13-EHM-
dup q21.1q21.32/

1-1
dup(13)(q21.1q21.32) none {1}  
  13-EHM-
dup q21.1q21.33/

1-1
dup(13)(q21.1q21.33) mild to moderate {1}  
  13-EHM-
dup q21.31q31.1/

1-1
dup(13)(q21.31q31.1) mild to moderate {1}  
  13-EHM-
dup
q22q34
/

1-1
dup(13)(q22q34) mild to moderate {1}  
  13-EHM-
dup q34qter/

1-1
der(1)t(1;13)(q44;q34)
PAC 163C9
none {74}