CASES WITH HETEROMORPHISMS
- Chromosome 15 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  15-
p13-p12/
1-1 to several
dup(15)(p13p12) none {1, page 42}  
  15-
p13+/
1-1 to several
der(15)(p13amp) none {1}  
  15-
p13-/
1-1 to few
del(15)(p13) or del(15)(p13p13) none {1, pages 51-52}  
  15-
p12+/

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

1-1 to few
del(15)(p12) or del(15)(p12p12)
NOR
none {1, pages 51-52}  
  15-
p11.2+/

1-1 to several
der(15)(p11.2amp) none {1}  
  15-
p11.2-/

1-1 to few
del(15)(p11.2) or del(15)(p11.2p11.2) none {1, pages 51-52}  
  15-
cen+/

1-1 to many
15cen+
D15Z3 in 15q11.1
(can also be in D15Z4 in 15p11.1)
none {1, pages 72-73}  
  15-
cen-/

1-1 to few
15cen-
D15Z3 in 15q11.1
(can also be in D15Z4 in 15p11.1)
none {1, pages 72-73}  
  15-
inv/

1-1
inv(15)(p12p13) none {1, Color Plate 1, VI}  
  15-
inv(dup)/

2-1
der(15)(:p11.1p13::p13qter) none {0}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  15-
HHM-owncep/
1-1
D15Z1 was inserted in
13, 14, 21, 22;
has already been seen on 2 add. acrocentrics simultanously
{1; 8}  
  15-
HHM-13p11.1q11-
21p11.1q11.1/
1-1
der(15)t(13/21;15)(p11.1;p11.1)
D13/21Z1 signal on one #15
none {1, page 81; 8, 49}  
  15-
HHM-acro/

1-1
der(15)t(15;acro)(q26.3;p11.2) none {0;1}  
  15-
HHM-Yq12/

1-1
to 1-17
der(15)t(Y;15)(q12;p11.2) in 13/23 = 52% of cases with t(Y;acro) none {3; 4 1, page 47; 70}  
  15-
HHM-Yq12/

2-1
ins(15;Y)(q10;q12q12) none {1, page 83; 61}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  15-EHM-
del
q11q12/

1-1
del(15)(q11q12)
RP11-138C5
mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  15-EHM-
dup pterq11.2/

1-1 to 1-2
der(15)t(13;15)(q1?1;q11.2) none, infertile
{1; 8}  
  15-EHM-
dup q11.2q13/

1-1 to multiple
dup(15)(q11.2q13)
RP11-138C5
none {1}  
  15-EHM-
dup pterq11.2/

1-3 to many
sSMC(15) none {sSMC
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