CASES WITH HETEROMORPHISMS
- Chromosome 1 -

 

      
 

Heterochromatic

- centromeric


- other heterochromatic variants

Euchromatic

- euchromatic deletions


- euchromatic amplifications

 
      

 


References

Heterochromatic

(peri)centomeric variants

 
  case no. (molecular) cytogenetic result
clinical symptoms reference  
  01-
cen+/

1-1 to few
1cen+
D1Z7 = D5Z2 = D19Z3
none {1, page 58}  
  01-
cen+/

2-1 to few
dup(1)(p11.1q11) none {1, page 59}  
  01-
cen-/

1-1 to few
1cen-
D1Z7 = D5Z2 = D19Z3
none {1, page 58}  
  01-
inv/

1-1 to few
inv(1)(p12q13) none {1, page 59}  
  01-
inv/

2-1 to few
inv(1)(p11q12) none {1, page 59}  
  01-
q12/
1-1 to 1-98
1qh+
D1Z5
there can be large qh+ variants with GTG-positive extra bands and without such
none {1,
page 9}
 
  01-
q12/
2-1 to few
1qh-
D1Z5
none {1,
page 58}
 
                 

 

other heterochromatic variants

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  01-
HHM-owncep/
1-1 to many

D1Z7 (stains 1p11.1q11)
gives always signals on 5p11 (=D5Z2) and 19p11.1 (=D19Z3)

none {1}  
  01-
HHM-1q12/

1-1
D1Z5 material was inserted in
X
{1; 47}  
  01-
HHM-acro/

1-1 to 1-2
der(1)t(1;acro)(p36.33;p11.2) none {1; 13; 14}  
  01-
HHM-acro/

2-1
der(1)t(1;acro)(q44;p11.2) none {1; 15}  
  01-
HHM-18p11.1q11.1/

1-1
ins(1;18)(q12;p11.1q11.1) none {1, page 81, 55}  
  01-
HHM-Xp11.1q11.1/

1-1

ins(1;X)(q10;p11.1q11.1),
ins(12;X)(q10;p11.1q11.1),
ins(17;X)(q10;p11.1q11.1)

none {1, page 81; 60}  
  01-
HHM-Yq12/

1-1

der(1)t(Y;1)(q12;p34.3)

none {70}  
  01-
HHM-Yq12/

2-1

ins(1;Y)(q12;q12q12)

none {1, page 83; 61  
                 

 


References

Euchromatic

 

Euchromatic deletions

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  01-EHM-
del
p34.3p34.1/

1-1
del(1)(p34.3p34.1) mild to moderate {1}  
  01-EHM-
del
p32.1p31.3/

1-1
del(1)(p32.1p31.3) mild to moderate {1}  
  01-EHM-
del
q42.1q42.3/

1-1
del(1)(q42.1q42.3) mild to moderate {1}  
  01-EHM-
del
q44q44/

1-1
del(1)(q44q44) none {1}  
                 

 

Euchromatic duplications

 
  case no. (molecular) cytogenetic result clinical symptoms reference  
  01-EHM-
dup p36.33p36.22/

1-1
dup(1)(p36.33p36.22) mild to moderate {1, page 88}  
  01-EHM-
dup p34.2p34.1/

1-1
dup(1)(p34.2-p34.1) mild to moderate {1, page 88}  
  01-EHM-
dup
p31p21/

1-1
dup(1)(p31-p21) none {1, page 88}  
  01-EHM-
dup p12q21.1/

1-1 to few
sSMC(1)
none
{sSMC
page
}
 
  01-EHM-
dup
q11-q22/

1-1
dup(1)(q11q22) none {1, page 88}  
  01-EHM-
dup q31.1q32.3/

1-1
dup(1)(q31.1q32.3) none {1, page 88}  
  01-EHM-
dup q42.11q42.12/

1-1
dup(1)(q42.11q42.12) none {1, page 88}  
  01-EHM-
dup
q23q25
/

1-1
dup(1)(q23q25) none {1, page 88}