CASES WITH HETEROMORPHISMS
- Chromosome 2 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  02-
cen+/

1-1 to few
2cen+
D2Z1
none {1, pages 59-60}  
  02-
cen-/

1-1 to few
2cen-
D2Z1
none {1, pages 59-60}  
  02-
inv/

1-1 to many
inv(2)(p11.2q13)
4 variants reported, yet
most frequent variant identifiable by
RP11-153P14 / RP11-1429F20 and RP11-80K12
none {1, page 10; 39}  
                 

 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  02-
HHM-acro/

1-1 to 1-6
der(2)t(2;acro)(q37.3;p11.1) none {1; 9; 16-18}  
  02-
HHM-18p11.1q11.1/

1-1
ins(2;18)(q10;p11.1q11.1) none {1, page 81; 56}  
                 

 


References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  02-EHM-
del
p12p12/

1-1 to 1-2
del(2)(p12p12) none {1}  
  02-EHM-
del
p12p11.2/

1-1 to 1-2
del(2)(p12p11.2) none {1; 64}  
  02-EHM-
del
q13q13/

1-1
del(2)(q13q13) none {1}  
  02-EHM-
del
q13q14.1/

1-1
del(2)(q13q14.1) none {1}  
  02-EHM-
del
q14.1p14.2/

1-1
del(2)(q14.1q14.2) none {1}  
  02-EHM-
del
q37.3/

1-1 to multiple
del(2)(q37.3qter)
FISH: 210E14 (P1), 2112b2 (cosmid)
PAC 1011O17 and/or P1 210E14
none {5;9; 68; 74}  
                 

 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  02-EHM-
dup p11.2q11.2/

1-1 to few
sSMC(2) none {sSMC
page
}
 
  02-EHM-
dup
q11.2q21.1/

1-1
dup(2)(q11.2q21.1) minor clinical signs {1, page 86}  
  02-EHM-
dup
q31.1q31.2/

1-1
dup(2)(q31.1q31.2) minor clinical signs {1, page 86}  
  02-EHM-
dup q37.3/

1-1 to multiple
dup(2)(q37.3qter)
FISH
: 210E14 (P1), 2112b2 (cosmid)
none
{5}