ChromosOmics - Database
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                                                     - CHROMOSOME  14  -                                                   


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
14-
p13-p12/
1-1 to several

dup(14)(p13p12)
none
{1, page 42}
14-
p13+/
1-1 to several

der(14)(p13amp)
none
{1}
14-
p13-/
1-1 to few

del(14)(p13) or del(14)(p13p13)
none
{1, pages 51-52}
14-
p12+/
1-1 to 1-2

der(14)(p12amp)
NOR

none
{1}
14-
p12-/
1-1 to few

del(14)(p12) or del(14)(p12p12)
NOR

none
{1, pages 51-52}
14-
p11.2+/
1-1 to several

der(14)(p11.2amp)
none
{1}
14-
p11.2-/
1-1 to few

del(14)(p11.2) or del(14)(p11.2p11.2)
none
{1, pages 51-52}
14-
cen+/

1-1 to many
14cen+
D14Z1

none
{1, pages 70-71}
14-
cen-/
1-1 to few

14cen-
D14Z1

none
{1, pages 70-71}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
14-
HHM-
own acro/
1-1

material was inserted in 6
none
{0}
14-
HHM-
own cep/
1-1 to many

D14Z1 = D22Z1 gives always signals 22p11.1q11.1
none
{1}
14-
HHM-
13p11.1q11-
21p11.1q11.1/
1-1 to 1-2

der(14)t(13/21;14)(p11.1;p11.1)
D13/21Z1 signal on one #14

none
{1, page 81; 8; 48}
14-
HHM-
15p11.2/
1-1 - many

der(14)t(14;15)(p11.1;p11.1)
D15Z1 signal on one #14

none
{1, page 46}
14-
HHM-
Yq12/
1-1

der(14)t(Y;14)(q12;p11.2) in 1/23 = 4% of cases with t(Y;acro)
none
{3; 1, page 47}
14-
HHM-
acro/
1-1

der(14)t(14;acro)(q23.33;p11.2)
none
{98 (case 14ps)}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
14-
EHM-del
q12q13/

1-1
del(14)(q12q13)
mild to moderate
{1}
14-
EHM-del
q31q31/
1-1

del(14)(q31q31)
mild to moderate
{1}
14-
EHM-del
q32.33qter/
1-1

del(14)(q32.33)
reduction of signal size


none

{77}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
14-
EHM-dup
pterq11.2/
1-1 to few

sSMC(14)
none
{sSMC
page}

14-
EHM-dup
q24.3q31/
1-1

dup(14)(q24.3q31)
none
{1}
14-
EHM-dup
q13q22/
1-1

dup(14)(q13q22)
mild to moderate
{1}
14-
EHM-dup
q32.33qter/
1-1

der(3)t(3;14)(p26.3;q32.33)
none
{77}