CASES WITH HETEROMORPHISMS
- Chromosome 3 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  03-
p11.1+/

1-1 to many
der(3)(p11.1amp)
best visible in Q-banding or inverted DAPI-banding
none {1, pages 60-61}  
  03-
p11.1-/

1-1 to few
del(3)(p11.1p11.1)
best visible in Q-banding or inverted DAPI-banding
none {1, pages 60-61}  
  03-
cen+/

1-1 to few
3cen+
D3Z1
none {1, pages 60-61}  
  03-
cen-/

1-1 to few
3cen-
D3Z1
none {1, pages 60-61}  
  03-
q11.1-q11.2+/

1-1 to many
der(3)(q11.1q11.2amp)
best visible in Q-banding or inverted DAPI-banding
none {1, pages 60-61}  
  03-
q11.1-q11.2-/

1-1 to few
del(3)(q11.1q11.2)
best visible in Q-banding or inverted DAPI-banding
none {0; 1, pages 60-61}  
  03-
inv/

1-1 to many
inv(3)(p11.2~13q12)
frequency 2% in general population
none {1, pages 60-61}  
  03-
inv/

2-1 to few
inv(3)(p12q24)
frequent in Finland
none {1, page 61; 41}  
  03-
inv/

3-1
inv(3)(p11q11) none {1, page 61; 40}  
  03-
inv/

4-1
inv(3)(q11.1q11.2) none {0}  
                 

 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  03-
HHM-acro/

1-1
ins(3;acro)(q1?2;p11.2p11.2) none {0}  
  03-
HHM-acro/

2-1
der(3)t(3;acro)(q29;p11.2) none {0; 1}  
                 

 


References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  03-EHM-
del
p26.3p25?.3/

1-1 to 1-4
del(3)(p26.3p25?.3) none {1; 77}  
  03-EHM-
del
p26.3p25?.3/

2-1 to 2-2
del(3)(p26.3p25?.3) mild to moderate {1}  
  03-EHM-
del
p26.3/

3-1
del(3)(p26.3) mild to moderate {1}  
  03-EHM-
del
p26.1/

1-1
del(3)(p26.1) none {1; 68}  
  03-EHM-
del
p12.3p11.2/

1-1
del(3)(p12.3p11.2) mild to moderate {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  03-EHM-
dup p12.2q13.11/

1-1 to few
sSMC(3)
none
{sSMC
page
}
 
  03-EHM-
dup
q25q25/

1-1
dup(3)(q25q25) none {1, page 88}  
  03-EHM-
dup
q25.3q26.2/

1-1
dup(3)(q25.3q26.2) mild to moderate {1, page 88}  
  03-EHM-
dup
q28q29/

1-1
dup(3)(q28q29)
none {1, page 88}  
  03-EHM-
dup
q29q29/

1-1
dup(3)(q29q29)
(probe not specified)
none {75}