CASES WITH HETEROMORPHISMS
- Chromosome 22 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  22-
p13-p11.2/
1-1
der(22)(pterp11.2::p13p11.2::p13qter) none {1; Color Plate 2, I}  
  22-
p13-p12/
1-1 to several
dup(22)(p13p12) none {1, page 42}  
  22-
p13+/
1-1 to several
der(22)(p13amp) none {1}  
  22-
p13-/
1-1 to few
del(22)(p13) or del(22)(p13p13) none {1, pages 51-52}  
  22-
p12+/

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

1-1 to few
del(22)(p12) or del(22)(p12p12) none {1, pages 51-52}  
  22-
p11.2+/

1-1 to several
der(22)(p11.2amp)
D22Z4 or D22Z3
none {1}  
  22-
p11.2-/

1-1 to few

del(22)(p11.2) or del(22)(p11.2p11.2)
D22Z4 or D22Z3

none {1, pages 51-52}  
  22-
cen+/

1-1 to many
22cen+
D22Z1
none {1, pages 78-79}  
  22-
cen-/

1-1 to many
22cen-
D22Z1
none {1, pages 78-79}  
  22-
inv/

1-1
der(22)(pterp13::p11.2p11.2:
:p11.2p12::p11.2qter)
none {1; Color Plate 1, VII}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  22-
HHM-owncep/
1-1 to many
D22Z1 = D14Z1 gives always signals 14p11.1q11.1 {1}  
  22-
HHM-ownp-arm/
1-1

22p11.2amp,22p11.2del

none {0}  
  22-
HHM-13p11.1q11-
21p11.1q11.1/
1-1 to 1-7
der(21)t(13/21;22)(p11.1;p11.1)
D13/21Z1 signal on one #22
none {1, page 81; 8; 49-54}  
  22-
HHM-15p11.2/
1-1 to multiple
der(22)t(15;22)(p11.1;p11.1)
D15Z1 signal on one #22
none {4; 1, page 46}  
  22-
HHM-15p11.2/
1-1
der(22)(15pter15p11.2::15p1315p11.2::22p1?222qter)
D15Z1 signal 2 times on one #22
none {1; Color Plate 2, II}  
  22-
HHM-acro/

1-1
der(22)t(22;acro)(q22.3;p11.2) none {0;1}  
  22-
HHM-acro/

2-1
ins(22;acro)(q?;acro) none {1;37}  
  22-
HHM-18p11.1q11.1/

1-1
ins(22;18)(q10;p11.1q11.1) none {1, page 81; 58}  
  22-
HHM-Yq12/

1-1 to 1-7
der(22)t(Y;22)(q12;p11.2) in 6/23 = 33% of cases with t(Y;acro) none {3; 1, page 47; 69}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  22-EHM-
del
pterq11.21/

1-1
del(22)(pterq11.21) none {1}  
  22-EHM-
del
pterq11.2/

1-1
del(22)(pterq11.2) mild to moderate {1}  
  22-EHM-
del
q11.2q11.2/

1-1
del(22)(q11.2q11.2) mild to moderate {1}  
  22-EHM-
del
q13.3q13.3/

1-1
del(22)(q13.3q13.3) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  22-EHM-
dup
pterq11.21/
1-1 to few

sSMC(22) none
{sSMC
page
}
 
  22-EHM-
dup
pterq11.21/
2-1 to few

der(22)(pterq11.21::p11.2qter) none {0; 1}