ChromosOmics - Database
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                                                     - CHROMOSOME  5  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
05-
cen+/

1-1 to few
5cen+
D5Z2 (stains 5p11 only!) = D1Z7 = D19Z3

none
{1, pages 62-63}
05-
cen-/
1-1 to few

5cen+
D5Z2 (stains 5p11 only!) = D1Z7 = D19Z3

none
{1, pages 62-63}
05-
q11.1+/
1-1 to many

der(5)(q11.1amp)
best visible in Q-banding or inverted DAPI-banding

none
{1, pages 62-63}
05-
q11.1-/
1-1 to few

del(5)(q11.1q11.1)
best visible in Q-banding or inverted DAPI-banding

none
{1, pages 62-63}
05-
inv/
1-1 to few

inv(5)(p12~13q13)
none to controversially discussed in literature
{1, pages 62-63}


Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
05-
HHM-
owncep/
1-1 to many

D5Z2 (stains 5p11 only!)
gives always signals on 1p11.1q11 (=D1Z7) and 19p11.1 (=D19Z3)

none
{1}
05-
HHM-
9q12/
1-1 to 1-2

ins(5;9)(q11.1;q12q12)
none
{1, page 63; 44; 45}
05-
HHM-
9q12/
2-1

ins(5;9)(q1?4;q12q12)
none
{0-53528}
05-
HHM-
acro/

1-1
der(5)t(5;acro)(q35.3;p11.2)
none
{98 (case 5qs)}


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
05-
EHM-del
pterp15.3/
1-1

del(5)(p15.3)
none
{1}
05-
EHM-del
pterp15.3~.2/
1-1

del(5)(p15.3~15.2)
mild to moderate
{1}
05-
EHM-del
pterp15.2/
1-1

del(5)(p15.2)
mild to moderate
{1}
05-
EHM-del
p15.1p15.1/
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
05-
EHM-del
p14p14/
1-1

del(5)(p14p14)
none
{1}
05-
EHM-del
q13.2p13.2/
1-1

del(5)(q13.2q13.2)
aCGH (hg19): 68.94-70.59 Mb

none
{78}
05-
EHM-del
q14.3q15/
 1-1

del(5)(q14.3q15) none
{0} - 61791
05-
EHM-del
q14.3q21.3/
1-1

del(5)(q14.3q21.3) mild to moderate
{1}


Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
05-
EHM-dup
p15.33/

1-1 to mutiple
114j18 (BAC) can produce add. signals on acro-p-arms
none
{5}
05-
EHM-dup
p15.33p15.1/
1-1

dup(5)(p15.33p15.1)
mild to moderate
{1, pages 89-90}
05-
EHM-dup
p15.33p14/
1-1

dup(5)(p15.33p14)
mild to moderate
{1, pages 89-90}
05-
EHM-dup
p13.1q11.2/
1-1 to few

sSMC(5)
none
{sSMC
page}

05-
EHM-dup
q15q21/
1-1 to 1-2

dup(5)(q15q21)
none (1 family)
mild to moderate (1 family)

{1, pages 89-90}
05-
EHM-dup
q35q35.3/
1-1 to 1-2

dup(5)(q35q35.3)
mild to moderate
{1, pages 89-90}
05-
EHM-dup
q35.3/
1-1 to multiple

B22a4 (cosmid) can produce add. signals on acro-p-arms
none
{5}