ChromosOmics - Database
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                                                     - CHROMOSOME  7  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
07-
cen+/

1-1 to few
7cen+
D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1)

none
{1, page 64}
07-
cen-/
1-1 to few

7cen-
D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1)

none
{1, page 64; 90}


Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
07-
HHM-
acro/
1-1

ins(7;acro)(p13;acro)
none
{1; 9}
07-
HHM-
acro/
2-1

ins(7;acro)(q21.3~22.1;acro)
none
{1; 25}
07-
HHM-
Yq12/
1-1

mos 45,X,der(7)t(Y;7)(p11.1~11.2;p22.3)/45,X
Turner
{11}


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
07-
EHM-del
pterp22/

1-1
del(7)(p22)
none
{1}
07-
EHM-del
p33~34q35/

1-1
del(7)(q33~34q35)
none
{0
26628}

07-
EHM-del
q36.3qter/
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}



Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
07-
EHM-dup
pterp22.3/
1-1

dup(7pterp22.3)
none
{1}
07-
EHM-dup
p13p12.2/
1-1 to 1-3

dup(7)(p13p12.2)
mild to moderate
{1}
07-
EHM-dup
p12.p11.2/
1-1

dup(7)(p11.2p12)
none to mild to moderate in family
{85}
07-
EHM-dup
p11.2q11.22/
1-1 to few

sSMC(7)
none
{sSMC
page}

07-
EHM-dup
q31.31q31.33/
1-1

dup(7)(q31.31q31.33)
hg19: 118.601001-126.177044 Mb

none
{111}
07-
EHM-dup
q32q36.1/
1-1

dup(7)(q32q36.1)
mild to moderate
{1}