ChromosOmics - Database
tl_files/tiny_templates/Bilder
                        TL/hetmorh-book.jpg

                                                     - CHROMOSOME  1 -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric 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)(p12q12~21.1)
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}



Heterochromatic - 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
none
{1; 47}
01-
HHM-
acro/

1-1 to 1-3
der(1)t(1;acro)(p36.33;p11.2)
none
{1; 100; 13; 14; 104}
01-
HHM-
acro/
2-1 to 2-2

der(1)t(1;acro)(q44;p11.2)
none
{15; 100; 101}
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


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
p36.22p36.11/
1-1

dup(1)(p36.22p36.13)
mild to moderate
{0, 66074}
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}