CASES WITH HETEROMORPHISMS
- Chromosome 16 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  16-
cen+/

1-1 to few
16cen+
D16Z2
none {1, pages 73-74}  
  16-
cen+/

2-1
dup(16)(p11.1q11.2) none {1, page 74}  
  16-
cen-/

1-1 to few
16cen-
D16Z2
none {1, pages 73-74}  
  16-
inv/

1-1 to few
inv(16)(p11.2q12.1) none {1, page 74}  
  16-
q11.2/
1-1 to many
16qh+
band 16q11.2 - D16Z3
0,37% in general population
none {1, pages 9, 73-74}  
  16-
q11.2/
1-1 to few
16qh-
band 16q11.2 - D16Z3
0,016% in general population
none {1, pages 73-74}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  16-
HHM-acro/

1-1
ins(16;acro)(p11.2;acro) none {14; 1, color plate 2, VII}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  16-EHM-
del
pterp13.3/

1-1

del(16)(p13.3)
ranging from 2.7 to 268 kb

mild {1}  
  16-EHM-
del
q13q22/

1-1
del(16)(q13q22) none {1}  
  16-EHM-
del
q21q21/

1-1
del(16)(q21q21) none {1}  
  16-EHM-
del
q24.3qter/

1-1
del(16)(q24.3) none {1}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  16-EHM-
dup
pterp13.3/
1-1 to 1-2
der(18)t(16;18)(q24.3;p13.3) none {77}  
  16-EHM-
dup
p11.2p11.2/
1-1 to few
dup(16)(q11.2q11.2)
RP11-96K14
none {1}  
  16-EHM-
dup p11.2q12.1/

1-1 to few
sSMC(16) none
{sSMC
page
}
 
  16-EHM-
dup q12.1q12.1/

1-1
dup(16)(q12.1q12.1) none {1}  
  16-EHM-
dup q11.2q12.1/

1-1
dup(16)(q11.2q12.1) mild to moderate {1}  
  16-EHM-
dup q11.2q13.1/

1-1
dup(16)(q11.2q13.1) mild to moderate {1}  
  16-EHM-
dup q12q11.2/

1-1
to multiple
dup(16)(p12p11.2)
RP11-96K14 or RP11-488I20
can be extremely large {65}
none {1; 65}}