CASES WITH HETEROMORPHISMS
- Chromosome 9 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  09-
cen+/

1-1 to few
9cen+
D9Z4
none {1, pages 66-68; 46}  
  09-
cen+/

2-1 to few
dup(9)(p11.1q11) none {1, pages 66-68; 46}  
  09-
cen+/

3-1 to few
dup(9)(p11.1q12)
most likly some subvariants exist
none {1, pages 66-68; 46}  
  09-
cen+/

4-1 to few
dup(9)(p11.1q21.11)
most likly some subvariants exist
none {1, pages 66-68; 46}  
  09-
cen+/

5-1 to few
dup(9)(p11.1q11) none {1, pages 66-68; 46}  
  09-
cen-/

1-1 to few
9cen-
D9Z4
none {1, pages 66-68; 46}  
  09-
inv9p23/
1-1 to 1-10
inv(9)(p23q22.3)
frequently observed in Greece
none {0}  
  09-
inv-9n.d./

1-1 to 1-173
inv(9)(p11q13) none {1, page 10}  
  09-
inv9n.d./
1-174
46,XN,inv(9)(p11q13)dn n.a. {1, page 25}  
  09-
inv9p12/
1-1 to many
inv(9)(p12q21.11) = inv(9)(var1)
none {1, pages 66-68; 46}  
  09-
inv9p13.1/
1-1 to many
inv(9)(p13.1q21.11) = inv(9)(var2)
none {1, pages 66-68; 46}  
  09-
inv9p13.1/
1-1 to few
inv(9)(p13.1q21.11) = inv(9)(var2a)
none {1, pages 66-68; 46}  
  09-
inv9p11.1/
1-1 to few
inv(9)(p11.1q12) = inv(9)het
none {1, pages 66-68; 46}  
  09-
q12/
1-1 to 1-87
qh+
D9Z3
none {1, page 9}  
  09-
q12/
1-88
qh+
D9Z3
none {1, page 25}  
  09-/
q12/
2-1 to few
dup(9)(q12q13)
at least two variants
none {1, pages 66-68; 46}  
  09-
q12/
3-1 to few
qh-
D9Z3
none {1, pages 66-68; 46}  
           

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  09-
HHM-owncep/
1-1 to few

D9Z4
can give signals on centromere 4

{1}  
  09-
HHM-9q12/

1-1 to 1-2
D9Z3 was inserted in / added to
5
{1, page 63; 44-45}  
  09-
HHM-18p11.1q11.1/

1-1
ins(9;18)(q12;p11.1q11.1) none {1, page 81, 57}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  09-EHM-
del pterp24.3/

1-1
del(9)(p24.3)
PAC 43N6
none {74}  
  09-EHM-
del p13p13/

1-1 to few
del(9)(p13p13), i.e. 9ph- none {1, pages 66-68; 46}  
  09-EHM-
del
q13q13/
1-1 to few
del(9)(q13q21.11) none {1}  
  09-EHM-
del q31.2q32/

1-1
del(9)(q31.2q32) none {1}  
  09-EHM-
del
q34.3qter/

1-1
del(9)(q34.3) none {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  09-EHM-
dup
p24.2p13.3/
1-1
dup(9)(p24.2p13.3) none {1]  
  09-EHM-
dup
p24p22/
1-1
dup(9)(p24p22) mild to moderate {1}  
  09-EHM-
dup p13/
1-1
to multiple
dup(9)(p13p13), i.e. 9ph+
RP11-402N8;  RP11-128P23
none
{1, pages 66-68; 94-95; 46}  
  09-EHM-
dup p13.1q21.12/

1-1 to few
sSMC(9) none {sSMC
page
}
 
  09-EHM-
dup p13/
2-1
to few
amp(9)(p13p13), i.e. 9ph++
at least 2 subtypes exist
none {1, pages 66-68, 94-95; 46}  
  09-EHM-
dup q13/
1-1 to few
dup(9)(q13q13), i.e. 9qh+(var1)
  RP11-211E19; RP11-88I18
none {1, pages 66-68; 94-95; 46}