ChromosOmics - Database
tl_files/tiny_templates/Bilder
                        TL/hetmorh-book.jpg

                                                     - CHROMOSOME  9  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

In Ref 92 it is suggested that lower PAPP-A and higher uE3 levels are observed
in women having fetuses with chromosomal polymorphisms of chr. 9, including 9ph+ variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
09-
cen+/

1-1 to few
9cen+
D9Z4

none
{1, pages 66-68; 46}
09-
cen+/
2-1 to few

dup(9)(p11.1q11)
none
{1, pages 66-68; 46}
09-
cen+/
3-1 to few

dup(9)(p11.1q12)
most likly some subvariants exist

none
{1, pages 66-68; 46}
09-
cen+/
4-1 to few

dup(9)(p11.1q21.11)
most likly some subvariants exist

none
{1, pages 66-68; 46}
09-
cen-/
1-1 to few

9cen-
D9Z4

none
{1, pages 66-68; 46}
09-
inv9p23/
1-1 to 1-10

inv(9)(p23q22.3)
frequently observed in Greece

none
{91}
09-
inv9p13.1/
1-1 to many

inv(9)(p13.1q21.11) = inv(9)(var2)
none
{1, pages 66-68; 46}
09-
inv9p13.1/
1-1 to few

inv(9)(p13.1q21.11) = inv(9)(var2a)
none
{1, pages 66-68; 46}
09-
inv9p12/
1-1 to many

inv(9)(p12q21.11) = inv(9)(var1)
none
{1, pages 66-68; 46}
09-
inv-9p11/
1-1 to 1-173 (and many more)

inv(9)(p11q13)
none
{1, page 10}
09-
inv9p11/
1-174

inv(9)(p11q13)dn
n.a.
{1, page 25}
09-
inv9p11.2/
1-1

inv(9)(p11.2q11)
none
{0-62984}
09-
inv9p11.1/
1-1 to few

inv(9)(p11.1q12) = inv(9)het
none
{1, pages 66-68; 46}
09-
q12/
1-1 to 1-87

9qh+
D9Z3

none
{1, page 9}
09-
q12/
1-88

qh+
D9Z3

none
{1, page 25}
09-/
q12/
2-1 to few

dup(9)(q12q13)
at least two variants

none
{1, pages 66-68; 46}
09-
q12/
3-1 to few

9qh-
D9Z3

none
{1, pages 66-68; 46}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
09-
HHM-
owncep/
1-1 to few

D9Z4
can give signals on centromere 4

none {1}
09-
HHM-
9q12/
1-1 to 1-2

D9Z3 was inserted in / added to
5
none

{1, page 63; 44-45}
09-
HHM-
9q12/
1-3

D9Z3 was inserted in / added to
8
none {0}
09-
HHM-
18p11.1q11.1/
1-1

ins(9;18)(q12;p11.1q11.1)
none
{1, page 81, 57}
09-
HHM-
acro/

1-1 to 1-3
der(9)t(9;acro)(q34.3;p11.2)
none
{1; 98 (case 9qs)}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
09-
EHM-del
pterp24.3/
1-1

del(9)(p24.3)
PAC 43N6

none
{74}
09-
EHM-del
p13p13/

1-1 to few
del(9)(p13p13), i.e. 9ph-
none
{1, pages 66-68; 46}
09-
EHM-del
q13q13/
1-1 to few

del(9)(q13q21.11)
none
{1}
09-
EHM-del
q31.2q32/
1-1

del(9)(q31.2q32)
none
{1}
09-
EHM-del
q34.3qter/
1-1

del(9)(q34.3)
none
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
09-
EHM-dup
p24.2p13.3/
1-1

dup(9)(p24.2p13.3)
none
{1}
09-
EHM-dup
p24p22/
1-1

dup(9)(p24p22)
mild to moderate
{1}
09-
EHM-dup
p21.3p12/
1-1

ins(5;9)(p13.3;p12p21.3)
none
{81}
09-
EHM-dup
p13/
1-1 to multiple

dup(9)(p13p13), i.e. 9ph+
RP11-402N8; RP11-128P23

none
{1, pages 66-68; 94-95; 46; 105}
09-
EHM-dup
p13.1q21.12/
1-1 to few

sSMC(9)
none
{sSMC
page}

09-
EHM-dup
p13/
2-1 to few

amp(9)(p13p13), i.e. 9ph++
at least 2 subtypes exist

none
{1, pages 66-68, 94-95; 46}
09-
EHM-dup
q13/
1-1 to few

dup(9)(q13q13), i.e. 9qh+(var1)
RP11-211E19; RP11-88I18

none
{1, pages 66-68; 94-95; 46}