ChromosOmics - Database
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                                                     - CHROMOSOME   2 -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
02-
cen+/

1-1 to few
2cen+
D2Z1

none
{1, pages 59-60}
02-
cen-/
1-1 to few

2cen-
D2Z1

none
{1, pages 59-60}
02-
inv/
1-1 to many

inv(2)(p11.2q13)
4 variants reported, yet
most frequent variant identifiable by
RP11-153P14 / RP11-1429F20 and RP11-80K12

none
{1, page 10; 39}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
02-
HHM-
acro/

1-1 to 1-6
der(2)t(2;acro)(q37.3;p11.1)
none
{1; 9; 16-18; 100}
02-
HHM-
acro/

2-1
der(2)t(2;acro)(p35.4;p11.1)
none
{16; 100}
02-
HHM-
Yq12/

1-1
der(2)t(Y;2)(q12;q37.31)
none
{0-36427}
02-
HHM-
18p11.1q11.1/
1-1

ins(2;18)(q10;p11.1q11.1)
none
{1, page 81; 56}


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
02-
EHM-del
p12p12/
1-1 to 1-2

del(2)(p12p12)
none
{1}
02-
EHM-del
p12p11.2/
1-1 to 1-2

del(2)(p12p11.2)
none
{1; 64}
02-
EHM-del
q13q13/
1-1

del(2)(q13q13)
none
{1}
02-
EHM-del
q13q14.1/
1-1

del(2)(q13q14.1)
none
{1}
02-
EHM-del
q14.1p14.2/
1-1

del(2)(q14.1q14.2)
none
{1}
02-
EHM-del
q37.3/

1-1 to multiple
del(2)(q37.3qter)
FISH: 210E14 (P1), 2112b2 (cosmid)
PAC 1011O17 and/or P1 210E14

none
{5;9; 68; 74}


Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
02-
EHM-dup pterp25.2/
1-1

der(7)t(2;7)(p25.2;q36.3)
size in 2p: 6.1 Mb
size in 7q: 1.1 Mb

minor clinical signs
{0
46677}
02-
EHM-dup p14.1p14.1/
1-1

del(5)(p15.1p15.1)
aCGH(hg19)-chr5:123,798,118-130,432,974
in same chr. insertion and thus three copies of
2p14.1
aCGH(hg19)-chr2:
65,237,764-66,484,321
none {83} case III-5
02-
EHM-dup
p13.2q11.2/
1-1
dup(2)(p13.2q11.2)
none

{102} case 8
02-
EHM-dup
p11.2q11.2/
1-1 to few

sSMC(2)
none

{sSMC
page}

02-
EHM-dup
q11.2q21.1/
1-1

dup(2)(q11.2q21.1)
minor clinical signs
{1, page 86}
02-
EHM-dup
q31.1q31.2/
1-1

dup(2)(q31.1q31.2)
minor clinical signs
{1, page 86}
02-EHM-
dup q37.3/

1-1 to multiple
dup(2)(q37.3qter)
FISH: 210E14 (P1), 2112b2 (cosmid)

none
{5}