CASES WITH HETEROMORPHISMS
- Chromosome 14 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  14-
p13-p12/
1-1 to several
dup(14)(p13p12) none {1, page 42}  
  14-
p13+/
1-1 to several
der(14)(p13amp) none {1}  
  14-
p13-/
1-1 to few
del(14)(p13) or del(14)(p13p13) none {1, pages 51-52}  
  14-
p12+/

1-1 to 1-2
der(14)(p12amp)
NOR
none {1}  
  for further NOR-region variants principally possible
but not specified for 13-15 or 21-22 yet see acro-chrs.
 
  14-
p12-/

1-1 to few
del(14)(p12) or del(14)(p12p12)
NOR
none {1, pages 51-52}  
  14-
p11.2+/

1-1 to several
der(14)(p11.2amp) none {1}  
  14-
p11.2-/

1-1 to few
del(14)(p11.2) or del(14)(p11.2p11.2) none {1, pages 51-52}  
  14-
cen+/

1-1 to many
14cen+
D14Z1
none {1, pages 70-71}  
  14-
cen-/

1-1 to few
14cen-
D14Z1
none {1, pages 70-71}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  14-
HHM-own acro/
1-1
material was inserted in
6
 
  14-
HHM-owncep/
1-1 to many
D14Z1 = D22Z1 gives always signals 22p11.1q11.1 {1}  
  14-
HHM-13p11.1q11-
21p11.1q11.1/
1-1 to 1-2
der(14)t(13/21;14)(p11.1;p11.1)
D13/21Z1 signal on one #14
none {1, page 81; 8; 48}  
  14-
HHM-15p11.2/
1-1 - many
der(14)t(14;15)(p11.1;p11.1)
D15Z1 signal on one #14
none {1, page 46}  
  14-
HHM-Yq12/

1-1
der(14)t(Y;14)(q12;p11.2) in 1/23 = 4% of cases with t(Y;acro) none {3; 1, page 47}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  14-EHM-
del
q12q13/

1-1
del(14)(q12q13) mild to moderate {1}  
  14-EHM-
del
q31q31/

1-1
del(14)(q31q31) mild to moderate {1}  
  14-EHM-
del
q32.33qter/

1-1

del(14)(q32.33)
reduction of signal size

none {77}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  14-EHM-
dup pterq11.2/

1-1 to few
sSMC(14) none
{sSMC
page
}
 
  14-EHM-
dup q24.3q31/

1-1
dup(14)(q24.3q31) none {1}  
  14-EHM-
dup q13q22/

1-1
dup(14)(q13q22) mild to moderate {1}  
  14-EHM-
dup
q32.33qter/

1-1
der(3)t(3;14)(p26.3;q32.33) none {77}