CASES WITH HETEROMORPHISMS
- Chromosome 4 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  04-
p11.1+/

1-1 to many
der(4)(p11.1amp)
best/only visible in Q-banding or inverted DAPI-banding

none

- both variants together present in ~8% of population

{1, pages 61-62; 42}  
  04-
p11.1q11.1+/

1-1 to many
der(4)(p11.1q11.1amp)
best/ only visible in Q-banding or inverted DAPI-banding
{1, pages 61-62; 42}  
  04-
cen+/

1-1 to many
4cen+
D4Z1
some of them may give impression of
small pericentric inv in GTG-banding
none {}  
  04-
cen-/

1-1 to many
4cen-
D4Z1
none {}  
                 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  04-
HHM-owncep/
1-1
to few

D4Z1
can give signals on centromere 9

none {1, pages 61-62}  
  04-
HHM-acro/

1-1 to 1-9
der(4)t(4;acro)(q35.2;p11.2) none {1; 19-23; 34}  
  04-
HHM-acro/

2-1
ins(4;acro)(q34.2;p12p12) none {1; 14}  
                 

References

Euchromatic

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  04-EHM-
del
pterp16.3/

1-1 to 1-4
del(4)(p16.3) none (in mother of affected child) {1}  
  04-EHM-
del
p16.3p15.33/

1-1 to 1-4
del(4)(p16.3p15.33) mild to moderate {1}  
  04-EHM-
del
p16.1p15.2/

1-1
del(4)(p16.1p15.2) mild to moderate {1}  
  04-EHM-
del
q32q33/

1-1
del(4)(q32q33) mild to moderate {1}  
  04-EHM-
del
q33qter/

1-1
del(4)(q33) mild to moderate {1}  
  04-EHM-
del
q33q35.1/

1-1
del(4)(q33q35.1) mild to moderate {1}  
  04-EHM-
del
q34qter/

1-1
del(4)(q33) mild to moderate {1}  
  04-EHM-
del
q34.1q34.3/

1-1 to 1-2
del(4)(q34.1q34.3) none /
mild to moderate
{1}  
  04-EHM-
del
q34.1~34.2/

1-1 to 1-2
del(4)(q34.1~q34.2) none {1, Color Plate 4, XIb}  
  04-EHM-
del
q35.1qter/

1-1
del(4)(q35.1) mild to moderate {1}  
  04-EHM-
del
q35.1q35.2/

1-1 to few
del(4)(q35.1q35.2) none {66; 67; 77}  
                 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  04-EHM-
dup p16.3q16.3/

1-1
der(22)t(4;22)(p16.3;p1?2) none {77}  
  04-EHM-
dup p16.2q16.1/

1-1
dup(4)(p16.2p16.1) mild to moderate {1, page 89}  
  04-EHM-
dup p16.1q16.1/

1-1
to few
dup(4)(p16.1p16.1)
RP11-637J21, RP11-751L19, RP11-264E23, RP11-180A12
none
or mild to moderate
{1, page 89}  
  04-EHM-
dup p13q13.1/

1-1 to few
sSMC(4)
none
{sSMC
page
}
 
  04-EHM-
dup q29qter/

1-1 to 1-6
variant sizes of duplications in this region none (2 families)
or mild to moderate (4 families)
{1, pages 89-91}