CASES WITH HETEROMORPHISMS
- Chromosome 5 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  05-
cen+/

1-1 to few
5cen+
D5Z2 (stains 5p11 only!) = D1Z7 = D19Z3
none {1, pages 62-63}  
  05-
cen-/

1-1 to few
5cen+
D5Z2 (stains 5p11 only!) = D1Z7 = D19Z3
none {1, pages 62-63}  
  05-
q11.1+/

1-1 to many
der(5)(q11.1amp)
best visible in Q-banding or inverted DAPI-banding
none {1, pages 62-63}  
  05-
q11.1-/

1-1 to few
del(5)(q11.1q11.1)
best visible in Q-banding or inverted DAPI-banding
none {1, pages 62-63}  
  05-
inv/

1-1 to few
inv(5)(p12~13q13) none to controversially discussed in literature {1, pages 62-63}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  05-
HHM-owncep/
1-1 to many

D5Z2 (stains 5p11 only!)
gives always signals on 1p11.1q11 (=D1Z7) and 19p11.1 (=D19Z3)

none {1}  
  05-
HHM-9q12/

1-1 to 1-2
ins(5;9)(q11.1;q12q12) none {1, page 63; 44; 45}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  05-EHM-
del
pterp15.3/

1-1
del(5)(p15.3) none {1}  
  05-EHM-
del
pterp15.3~15.2/

1-1
del(5)(p15.3~15.2) mild to moderate {1}  
  05-EHM-
del
pterp15.2/

1-1
del(5)(p15.2) mild to moderate {1}  
  05-EHM-
del
p14p14/

1-1
del(5)(p14p14) none {1}  
  05-EHM-
del
q13.2p13.2/

1-1
del(5)(q13.2q13.2)
aCGH (hg19): 68.94-70.59 Mb
none {78}  
  05-EHM-
del
q14.3q21.3/

1-1
del(5)(q14.3q21.3) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  05-EHM-
dup
p15.33/

1-1 to mutiple
114j18 (BAC) can produce add. signals on acro-p-arms none
{5}  
  05-EHM-
dup
p15.33p15.1/

1-1
dup(5)(p15.33p15.1) mild to moderate {1, pages 89-90}  
  05-EHM-
dup
p15.33p14/

1-1
dup(5)(p15.33p14) mild to moderate {1, pages 89-90}  
  05-EHM-
dup p13.1q11.2/

1-1 to few
sSMC(5) none {sSMC
page
}
 
  05-EHM-
dup
q15q21/

1-1 to 1-2
dup(5)(q15q21) none (1 family)
mild to moderate (1 family)
{1, pages 89-90}  
  05-EHM-
dup
q35q35.3/

1-1 to 1-2
dup(5)(q35q35.3) mild to moderate {1, pages 89-90}  
  05-EHM-
dup
q35.3/

1-1 to multiple
B22a4 (cosmid) can produce add. signals on acro-p-arms none {5}