ChromosOmics - Database
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                                                     - CHROMOSOME  13  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants
for further NOR-region variants principally possible but not specified for13-15 or 21-22 yet see acro-chrs.

case no.
(molecular) cytogenetic result
clinical symptoms
reference
13-
p13-p12/
1-1 to several

dup(13)(p13p12)
none
{1, page 42}
13-
p13+/
1-1 to several

der(13)(p13amp)
none
{1}
13-
p13-/
1-1 to few

del(13)(p13) or del(13)(p13p13)
none
{1, pages 51-52}
13-
p12-/
1-1 to few

del(13)(p12) or del(13)(p12p12)
NOR

none
{1, pages 51-52}
13-
p11.2+/
1-1 to several

der(13)(p11.2amp)
none
{1}
13-
p11.2-/
1-1 to few

del(13)(p11.2) or del(13)(p11.2p11.2)
none
{1, pages 51-52}
13-
cen+/

1-1 to many
13cen+
D13Z1

none
{1, pages 70-71}
13-
cen-/
1-1 to many

13cen-
D13Z1  is weakly present in ~0.12% of general population
(FISH-signal can be completely absent)

none
{1, pages 70-71}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
13-
HHM-
owncep/
1-1 to many

D13Z1 = D21Z1 gives always signals 21p11.1q11.1
none
{1}
13-
HHM-
owncep/
2-1

D13Z1/D21Z1 was inserted in / translocated to 14; 15; 22
none
{1, page 81; 8; 48-54}
13-
HHM-
15p11.2/
1-1 - many

der(13)t(13;15)(p11.1;p11.1)
D15Z1 signal on one #13

none
{1, pages 45-46}
13-
HHM-
Yq12/
1-1

der(13)t(Y;13)(q12;p11.2) in 1/23 = 4% of cases with t(Y;acro)
none
{3; 1, page 47}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
13-
EHM-del
q14q14/

1-1
del(13)(q14q14)
none
{1}
13-
EHM-del
q14.1q21.3/
1-1

del(13)(q14.1q21.3)
none
{1}
13-
EHM-del
q14.1q22.1/
1-1

del(13)(q14.3q21.2;q22.1q22.1)
mild to moderate
{1}
13-
EHM-del
q21q21/
1-1

del13)(q21q21)
none
{1}
13-
EHM-del
q21.1q21.2/
1-1

del13)(q21.1q21.2)
hg19: 56.30-61.93 Mb

none
{0 - 57807}
13-
EHM-del
q21.1q21.31/
1-1

del(13)(q21.1q21.31)
none
{1}
13-
EHM-del
q21.1q21.33/
1-1

del(13)(q21.1q21.33)
none
{1}
13-
EHM-del
q31.1q31.3/
1-1

del(13)(q31.1q31.1)
mild to moderate
{1}
13-
EHM-del
q34qter/
1-1

del(13)(q34)
mild to moderate
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
13-
EHM-dup
pterq12.11/
1-1 to few

sSMC(13)
none
{sSMC
page}

13-
EHM-dup
q13q14.3/
1-1

dup(13)(q13q14.3)
none
{1}
13-
EHM-dup
q14.2q21.1/
1-1

dup(13)(q14.2q21.1)
none
{1}
13-
EHM-dup
q14.2q21.2/
1-1

dup(13)(q14.2q21.2)
none
{0 - 270-01}
13-
EHM-dup
q21.1q21.32/
1-1

dup(13)(q21.1q21.32)
none
{1}
13-
EHM-dup
q21.1q21.33/
1-1

dup(13)(q21.1q21.33)
mild to moderate
{1}
13-
EHM-dup
q21.31q31.1/
1-1

dup(13)(q21.31q31.1)
mild to moderate
{1}
13-
EHM-dup
q21.31q221/
1-1

dup(13)(q21.31q22.1)
aCGH(hg19): 63.60~63.65 to 74.53–74.61

none
{80} case 3
13-
EHM-dup
q22q34/
1-1

dup(13)(q22q34)
mild to moderate
{1}
13-
EHM-dup
q34qter/
1-1

der(1)t(1;13)(q44;q34)
PAC 163C9

none
{74}