CASES WITH HETEROMORPHISMS
- Chromosome 11 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  11-
cen+/

1-1 to many
11cen+
D11Z1
none {1, page 69}  
  11-
cen+/

1-1 to 1-2
dup(11)(p11.1q11) none {1, page 69}  
  11-
cen-/

1-1 to few
11cen-
D11Z1
none {1, page 69}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  11-
HHM-acro/

1-1
ins(11;acro)(q21;acro) none {35}  
  11-
HHM-Yq12/

1-1
ins(11;Y)(q24;q12q12) none {1, page 83; 62}  
  11-
HHM-Yq12/

2-1
ins(11;Y)(q10;q12q12) none {1, page 83; 63}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  11-EHM-
del
pterp15.5/

1-1
del(11)(p15.5) mild to moderate {1}  
  11-EHM-
del
p12p12/

1-1
del(11)(p12p12) none {1}  
  11-EHM-
del
q14.3q14.3/

1-1
del(11)(q14.3q14.3) none {1}  
  11-EHM-
del
q14.2q22.1/

1-1
del(11)(q14.2q22.1) none {1}  
  11-EHM-
del
q24.2qter/

1-1
del(11)(q24.2) mild to moderate {1}  
  11-EHM-
del
q25qter/

1-1 to 1-3
del(11)(q25)
none {1; 77}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  11-EHM-
dup
p15.5/
1-1

2209a2 (cosmid) can produce add. signals on 17pter none
{5}  
  11-EHM-
dup p15.1p14.3/

1-1
dup(11)(p15.1p14.3) mild to moderate {1}  
  11-EHM-
dup p11.12q12.1/

1-1 to few
sSMC(11) none {sSMC
page
}
 
  11-EHM-
dup q24.2q25/

1-1
dup(11)(q24.2q25) mild to moderate {1}  
  11-EHM-
dup q25q25/

1-1
dup(11)(q25q25) none in father of affected child {68}