ChromosOmics - Database
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                                                     - CHROMOSOME  3  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
03-
p11.1+/
1-1 to many

der(3)(p11.1amp)
best visible in Q-banding or inverted DAPI-banding

none
{1, pages 60-61}
03-
p11.1-/
1-1 to few

del(3)(p11.1p11.1)
best visible in Q-banding or inverted DAPI-banding

none
{1, pages 60-61}
03-
cen+/

1-1 to few
3cen+
D3Z1

none
{1, pages 60-61}
03-
cen+/
2-1
dup(3)(p11q11.2) none
{0-51939}
03-
cen-/
1-1 to few

3cen-
D3Z1

none
{1, pages 60-61}
03-
q11.1-q11.2+/
1-1 to many

der(3)(q11.1q11.2amp)
best visible in Q-banding or inverted DAPI-banding

none
{1, pages 60-61}
03-
q11.1-q11.2-/
1-1 to few

del(3)(q11.1q11.2)
best visible in Q-banding or inverted DAPI-banding

none
{0; 1, pages 60-61}
03-
inv/
1-1 to many

inv(3)(p11.2~13q12)
frequency 2% in general population

none
{1, pages 60-61}
03-
inv/
2-1 to few

inv(3)(p12q24)
frequent in Finland

none
{1, page 61; 41}
03-
inv/
3-1

inv(3)(p11q11)
none
{1, page 61; 40}
03-
inv/
4-1

inv(3)(q11.1q11.2)
none
{0}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
03-
HHM-
acro/
1-1

ins(3;acro)(q1?2;p11.2p11.2)
none
{0}
03-
HHM-
acro/

2-1 to 2-2
der(3)t(3;acro)(q29;p11.2)
none
{0; 1}


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
03-
EHM-del
p26.3p25?.3/

1-1 to 1-4
del(3)(p26.3p25?.3)
none
{1; 77}
03-
EHM-del
p26.3p25?.3/
2-1 to 2-2

del(3)(p26.3p25?.3)
mild to moderate
{1}
03-
EHM-del
p26.3/
3-1

del(3)(p26.3)
mild to moderate
{1}
03-
EHM-del
p26.1/
1-1

del(3)(p26.1)
none
{1; 68}
03-
EHM-del
p12.3p11.2/
1-1

del(3)(p12.3p11.2)
mild to moderate
{1}


Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
03-
EHM-dup
p12.2q13.11/

1-1 to few
sSMC(3)
none
{sSMC
page}

03-
EHM-dup
q24q24/
1-1

dup(3)(q24q24)
none
{0 - 60475}
03-
EHM-dup
q25q25/
1-1

dup(3)(q25q25)
none
{1, page 88}
03-
EHM-dup
q25.3q26.2/
1-1

dup(3)(q25.3q26.2)
mild to moderate
{1, page 88}
03-
EHM-dup
q28q29/
1-1

dup(3)(q28q29)
none
{1, page 88}
03-
EHM-dup
q29q29/
1-1

dup(3)(q29q29)
(probe not specified)

none
{75}
03-
EHM-dup
q29q29/
2-1

dup(3)(q29q29)
(aCGH (hg19): 197,016,565-197,766,791)

none
{0 -52800}