ChromosOmics - Database
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                                                     - CHROMOSOME  12  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
12-
p11.1+/
1-1 to many

der(12)(p11.1amp)
best visible in C-or Q-banding or inverted DAPI-banding

none
{1, pages 69-70}
12-
q11+/
1-1 to many

der(12)(q11amp)
best visible in C- or Q-banding or inverted DAPI-banding

none
{1, pages 69-70}
12-
cen+/

1-1 to many
12cen+
D12Z3

none
{1, pages 69-70}
12-
cen-/
1-1 to few

12cen-
D12Z3

none
{1, pages 69-70}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
12-
HHM-
acro/

1-1 to 1-5
der(12)t(12;acro)(p13.33;p11.2)
none
{1; 27}
12-
HHM-
acro/
2-1

ins(12;acro)(p11.1;acro)
none
{1; 36}
12-
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}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
12-
EHM-del
pterp13.33/

1-1
del(12)(p13.33)
mild to moderate
{1}
12-
EHM-del
pterp13.31/
1-1

del(12)(p13.31)
mild to moderate
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
12-
EHM-dup
p13.32p13.31/
1-1

dup(12)(p13.32p13.31)
none
{1}
12-
EHM-dup
p12.3p11.2/
1-1

dup(12)(p12.3p11.2)
mild to moderate
{1}
12-
EHM-dup
p12.3p11.2/
1-1

dup(12)(p12.2p12.2)
~19-22 Mb

none
{0 - 32914}
12-
EHM-dup
p13.33/
1-1 to multiple

496a11 (PAC) can produce add. signals on 6pter and 20qter-
none
{5}
12-
EHM-dup
p12.1q12/
1-1 to few

sSMC(12)
none
{sSMC
page}

12-
EHM-dup
q21.32q22/
1-1

dup(12)(q21.32q22)
none
{1}
12-
EHM-dup
q24.33q24.33/
1-1

dup(12)(q24.33q24.33)
mild to moderate
{1}