ChromosOmics - Database

Icon by Leon Liehr              

                                                     - CHROMOSOME  20  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
20-
cen+/

1-1 to few
20cen+, also 20ph+
D20Z2 in 20p11.1

none
{1, page 77}
20-
cen+/
1-1 to 1-2

20cen+, also 20qh+
for D20Z1 in 20q11.1

none
{82} 67563
20-
cen-/
1-1 to 1-2

20cen-
for D20Z1 in 20q11.1

none
{0-57077, 67563}
20-
inv20p11.1/
1-1

inv(20)(p11.1q11.1) with
20qh+ (for D20Z1 in 20q11.1)

none
{0-53956}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
20-
HHM-
owncep/
1-1 to many

D20Z2 (stains 20p11.1)
gives always signals on 2p11.2q11.1

none
{1}
20-
HHM-
acro/

1-1 to 1-5
der(20)t(20;acro)(p13;p11.2)

none
{1; 31; 0-52838; 98 (3 cases)}
20-
HHM-
acro/
2-1 to 2-2

der(20)t(20;acro)(q13.33;p11.2)
none
{1; 32; 98 (case 20qs}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
20-
EHM-del
pterp13/
1-1 to 1-2

del(20)(p13)
none
mild to moderate

{1; 77}
20-
EHM-del
p12.2p11.2/

1-1
del(20)(p12.2p11.2)
mild to moderate
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
20-
EHM-dup
p12.2p12.1/
1-1

dup(20)(p12.2p12.1)
none
{1}
20-
EHM-dup
p11.22q11.21/
1-1 to few

sSMC(20)
none
{sSMC
page}

20-
EHM-dup
q13.33qter/
1-1 to 1-3

der(22)(22pter→22q13.33:
:20q13.33→20q13.33:
:6p25.3→6pter)

none
{72; 73}