CASES WITH HETEROMORPHISMS
- Chromosome 19 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  19-
p12p11+/

1-1 to many
der(19)(p12p11amp) = 19ph+
best visible in C-, Q-banding or inverted DAPI-banding (4% of cases)
none {1, page 76}  
  19-
p12q12+/

1-1 to many
der(19)(p12q12amp) = 19qh+
best visible in C-, Q-banding or inverted DAPI-banding (9% of cases)
none {1, page 76}  
  19-
q11q12+/

1-1 to many
der(19)(q11q12amp)
best visible in C-, Q-banding or inverted DAPI-banding (11% of cases)
none {1, page 76}  
  19-
cen+/

1-1
19cen+
D19Z3 (stains 19p11.1 only!) = D1Z7 =
D5Z2
here cases with D19Z3 enlargements have been seen which look in inverted DAPI like 19ph+ and 19qh+
none {0; 1, page 76, Color Plate 4, VII}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  19-
HHM-owncep/
1-1 to many

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

none {1}  
  19-
HHM-Xp11.1q11.1/

1-1
ins(19;X)(q10;p11.1q11.1) none {1, page 81; 59}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  19-EHM-
del
pterp13/

1-1
del(19)(p13) none {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  19-EHM-
dup p13.11q13.11/

1-1 to few
sSMC(19) none
{sSMC
page
}