ChromosOmics - Database
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                        TL/hetmorh-book.jpg

                                                     - CHROMOSOME  18  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
18-
p11.1+/
1-1 to many

der(18)(p11.1amp) i.e. 18ph+
best visible in C-, Q-banding or inverted DAPI-banding

none
{1, pages 75-76}
18-
cen+/

1-1 to many
18cen+
D18Z1 in 18p11.1

none
{1, pages 75-76}
18-
cen+/
2-1 to many

18cen+
D18Z2 in 18q11.1
may also be visible in C-, Q-banding or inverted DAPI-banding

none
{1, pages 75-76}
18-
cen-/
1-1 to few

18cen-
D18Z1 in 18p11.1
(if available also possible with D18Z2)
(signal can also be absent)

none
{1, pages 75-76}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
18-
HHM-
owncep/
1-1

D18Z1 material was inserted in
1, 2, 9, 22
none
{1, page 81; 55-58}
18-
HHM-
acro/
1-1

der(18)t(18;acro)(q23;p11.2)
none
{1, Color Plate 2, Vc}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
18-
EHM-del
pterp11.3?2/
1-1

del(18)(p11.3?2)
none
{1}
18-
EHM-del
pterp11.31/

1-1 to 1-2
del(18)(p11.31)
acc. to {110} size is
4.538224 Mb
none
{1; 110}
18-
EHM-del
pterp11.3/
1-1

del(18)(p11.3)
mild to moderate
{1}
18-
EHM-del
pterp11.2/
1-1 to 1-2

del(18)(p11.2)
mild to moderate
{1}
18-
EHM-del
pterp11.23/
1-1

del(18)(p11.23)
mild to moderate
{1}
18-
EHM-del
pterp11.21/
1-1

del(18)(p11.21)
mild to moderate
{1}
18-
EHM-del
q21.1q21.1/
1-1

del(18)(q21.1q21.1)
none
{1}
18-
EHM-del
q2?1qter/
1-1

del(18)(q2?1)
mild to moderate
{1}
18-
EHM-del
q22.3qter/
1-1

del(18)(q22.3)
mild to moderate
{1}
18-
EHM-del
q23qter/
1-1

del(18)(q23)
mild to moderate
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
18-
EHM-dup
p11.32q11.2/
1-1 to few

dup(18)(p11.32q11.2)
mild to moderate
{1; 93}
18-
EHM-dup
p11.32q11.2/
2-1

der(18)(pter->q23::p11.21->pter)
none
{0 - 40262}
18-
EHM-dup
p11.32q13.3/
1-1

dup(18)(p11.32p13.3)
none
{1}
18-
EHM-dup
p11.22q11.1/
1-1

psu dic(18)(pter->q11.1::p11.21->qter)
none
{0 - 66740}
18-
EHM-dup
p11.21q11.2/
1-1 to few

sSMC(18)
none
{sSMC
page}

18-
EHM-dup
p11.21q23/
1-1

dup(18)(q11.2q23) none
{0}-40262
18-
EHM-dup
q11.2q12.2/
1-1

dup(18)(q11.2q12.2)
none
{1}
18-
EHM-dup
q21.31q22.2/
1-1

dup(18)(q21.31q22.2)
none
{1}
18-
EHM-dup
q21.21q22/
1-1

dup(18)(q21.21q22)
none
{1}
18-
EHM-dup
q21.33q23/
1-1

dup(18)(q21.33q23)
none
{1}