CASES WITH HETEROMORPHISMS
- Chromosome 6 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  06-
cen+/

1-1 to few
6cen+
D6Z1
none {1, pages 63-64}  
  06-
cen+/

3-1
to few
6cen+++ in 6p11.1
D6Z1
none {1, pages 63-64}  
  06-
cen+/

3-1 to 3-2
6cen+++ in 6q11.1
D6Z1
none {1, pages 63-64}  
  06-
cen+/

4-1 to few
dup(6)(p11.1q11.1) none {1, page 64; 43}  
  06-
cen-/

1-1 to few
6cen-
D6Z1
none {1, pages 63-64}  
  06-
inv/

1-1
inv(6)(p11.2q12) none {1, page 64}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  06-
HHM-acro/

1-1
ins(6;acro)(q15;acro) none {1; 33}  
  06-
HHM-acro14p/

1-1
ins(6;14)(p22;p12p12) none {38}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  06-EHM-
del
6pterp25/

1-1
del(6)(p25) none {1}  
  06-EHM-
del
q22.31q23.1/

1-1
del(6)(q22.31q23.1) none {1}  
  06-EHM-
del
q27qter/

1-1
del(6)(q27) none in mother of affected child {68}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  06-EHM-
dup pterq25.3/

1-1 to 1-3
der(22)(22pter22q13.33:
:20q13.3320q13.33:
:6p25.36pter)
none {72; 73}  
  06-EHM-
dup p16.2q23/

1-1
dup(6)(p16.2p23) mild to moderate {1}  
  06-EHM-
dup p12q12.1/

1-1 to few
sSMC(6) none
{sSMC
page
}
 
  06-EHM-
dup q16.1q21/

1-1
dup(6)(q16.1q21) none {1}  
  06-EHM-
dup q21q22.1/

1-1
dup(6)(q21q22.1) none {1}  
  06-EHM-
dup q23.3q24.2/

1-1
dup(6)(q23.3q24.2) none {1}  
  06-EHM-
dup
q24.2q24.2
/

1-1
dup(6)(q24.2q24.2) none {1}