 |
 |
-
CHROMOSOME 9 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
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
While in Ref 295 no hint on a clear correlation of chr. 9 heteromorphisms was found in >330 patients,
Ref 125 found enhanced apoptosis in 2/6 and oligozospermia in 4/6 studied patients.
| 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} |
| 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)} |
For mol. characterization of pericentric Chr. 9 EVs see Ref 128
| 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 q21.11q21.11/ 1-1 |
del(9)(q21.11q21.12)(midi36+,RP11-128P23+,D9Z4+,D9Z1+, RP11-88I18+,RP11-430C15+,RP11-20D12+,RP11-66O21+,midi36 dim) |
none |
{0 - 69228} |
| 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} |
For mol. characterization of pericentric Chr. 9 EVs see Ref 128
| 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 evtl. the same RP11-138L21 amp,RP11-128P23 amp,RP11-242D12 amp |
none |
{1, pages 66-68;
94-95; 46; 105} {0} 67564 {0} 68716 |
| 09- EHM-dup p13/ 2-1 |
ish
9ph+,inv(9)(q13q12)(midi36++,RP11-128P23++,D9Z4+,D9Z3+, midi36+,D9Z3+,RP11-430C15+,midi36+) |
none |
{0 - 69934} |
| 09- EHM-dup p13.1q21.12/ 1-1 to few |
sSMC(9) |
none |
{sSMC page} |
| 09- EHM-dup q13/ 1-1 to few |
dup(9)(q13q13),
i.e. 9qh+(var1) RP11-211E19; RP11-88I18 or amp(9)(q13q13)(RP11-128P23+,midi36+,D9Z4+,D9Z3+,midi36+++, RP11-430C15+) |
none |
{1, pages 66-68;
94-95; 46; 69333} |
| 09- EHM-dup q13/ 2-1 to 2-2 |
dup(9)(q13q21),
i.e. 9qh+(var1?) amp(9)(q13q21.11)(midi36+,RP11-128P23+,D9Z4+,midi36amp,RP11-430C15amp) |
none |
{0 - 68244; 0 - 69712} |