CASES WITH HETEROMORPHISMS
- Chromosome 17 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  17-
cen+/

1-1 to few
17cen+
D17Z1 in 17p11.1
none {1, pages 74-75}  
  17-
cen-/

1-1 to few
17cen-
D17Z1 in 17p11.1
absence of D17Z1 in 0.11% of general population
none {1, pages 74-75}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  17-
HHM-acro/

1-1 to many
der(17)t(17;acro)(p13.33;p11.2)
see below - here subtel 17p region lost
none
may be mixed up with fragile site in 17p!
{1; 28-30; 76}  
  17-
HHM-Xp11.1q11.1/

1-1
ins(1;X)(q10;p11.1q11.1),
ins(12;X)(q10;p11.1q11.1),
ins(17;X)(q10;p11.1q11.1)
none {1, page 81; 60}  
  17-
HHM-Yq12/

1-1
ins(17;Y)(q21.1;q12q12) none {0}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  17-EHM-
del
pterp13.3/

1-1 to few
del(17)(p13.3) mild to moderate or none {68}
{1; 76; 77}  
  17-EHM-
del
q25.3qter/

1-1
del(17)(q25.3) none in father of affected child {68}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  17-EHM-
dup
pterp13.3/

1-1
der(18)t(17;18)(p13.3;p13.3) none {77}  
  17-EHM-
dup p11.2q11.2/

1-1 to few
sSMC(17) none
{sSMC
page
}