 |
 |
-
CHROMOSOME 15 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
for further NOR-region variants principally possible but not specified for 13-15 or 21-22 yet see acro-chrs.
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 15- p13-p12/ 1-1 to several |
dup(15)(p13p12) |
none |
{1, page 42} |
| 15- p13+/ 1-1 to several |
der(15)(p13amp) |
none |
{1} |
| 15- p13-/ 1-1 to few |
del(15)(p13)
or del(15)(p13p13) |
none |
{1, pages 51-52} |
| 15- p12+/ 1-1 to 1-3 |
der(15)(p12amp) NOR |
none |
{1; 0 - 65363} |
| 15- p12+/ 2-1 |
amp(15)(p12~11.2) (D15Z1+++,midi54+++,NOR+++,D15Z4+) |
none |
{0 - 74851} |
| 15- p12-/ 1-1 to few |
del(15)(p12)
or del(15)(p12p12) NOR |
none |
{1, pages 51-52} |
| 15- p11.2+/ 1-1 to several |
der(15)(p11.2amp) |
none |
{1} {0 - 73850} |
| 15- p11.2-/ 1-1 to few |
del(15)(p11.2)
or del(15)(p11.2p11.2) |
none |
{1, pages 51-52} |
| 15- cen+/ 1-1 to many |
15cen+ D15Z3 in 15q11.1 (can also be in D15Z4 in 15p11.1) |
none |
{1, pages 72-73} |
| 15- cen-/ 1-1 to few |
15cen- D15Z3 in 15q11.1 (can also be in D15Z4 in 15p11.1) |
none |
{1, pages 72-73} |
| 15- inv/ 1-1 |
inv(15)(p12p13) |
none |
{1, Color Plate 1,
VI} |
| 15- inv(dup)/ 2-1 |
der(15)(:p11.1→p13::p13→qter) |
none |
{0} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
|
15-
HHM-owncep/ 1-1
|
D15Z1
was inserted in 13, 14, 21, 22; has already been seen on 2 add. acrocentrics simultanously. Even though being present in >10% in normal population Reference {97} suggests a correlations of this variant with aneuploidy in offspring |
none |
{1} |
|
15-
HHM-owncep- 15p11.2/ 1-1
|
der(15)(:p11.2->p13::p13->qter) |
none |
{0 - 58145} |
|
15-
HHM-amp- 15p11.2/ 1-1 to 1-2
|
D15Z1
was amplfied and band 15p11.2 thus got the
size of short arm of chromosome 17 |
none |
{0} provided by Drs. S.
Singer, U. Mau-Holzmann and D. Pflumm,
Tübingen, Germany; and case 68693 |
| 15- HHM-13p11.1q11- 21p11.1q11.1/ 1-1 |
der(15)t(13/21;15)(p11.1;p11.1) D13/21Z1 signal on one #15 |
none |
{1, page 81; 8, 49} |
| 15- HHM- acro/ 1-1 |
der(15)t(15;acro)(q26.3;p11.2)
|
none |
{0} |
| 15- HHM- acro/ 2-1 |
der(15)(15pter->15q1?3::acrop1?->acrop1?::15q1?3->15qter)
|
none |
{0 - 56848} |
| 15- HHM- acro/ 3-1 |
der(15)(15pter->15q12::15q13->NORamp::15q13->NORamp: :15q13->NORamp::15q13->NORamp: :15q13->NORamp::15q13->NORamp::15q12->15qter) |
none |
{0 - 63602} |
| 15- HHM- Yp11.1q11.1/ 1-1 to 1-2 |
ins(15;Y)(p11.1 or q11.1;p11.1q11.1) | none |
{130} |
| 15- HHM- Yq12/ 1-1 to 1-many |
der(15)t(Y;15)(q12;p11.2)
|
none |
{1, page 47; 3; 4;
70} |
| 15- HHM- Yq12/ 2-1 |
ins(15;Y)(q10;q12q12) |
none |
{1, page 83; 61} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 15- EHM-del q11.2/ 1-1 |
del(15)(q11.2q11.2) RP11-289D12 22.876632-22.990939 Mb |
none |
{0 - 78800} |
| 15- EHM-del q11q12/ 1-1 to few |
del(15)(q11q12) RP11-138C5 22.676624-23.226623 Mb |
mild
to moderate |
{1-
0-16861;
113} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 15- EHM-dup pterq11.2/ 1-1 to 1-2 |
der(15)t(13;15)(q1?1;q11.2) |
none,
infertile |
{1; 8} |
| 15- EHM-dup pterq11.2/ 1-3 to many |
sSMC(15) |
none |
{sSMC page} {see also 127} |
| 15- EHM-dup q11.2q11.2/ 1-1 to several |
dup(15)(q11.2q11.2) RP11-307C10 1 case with arr[GRCH37] 15q11.2(22,770,422_23,288,350)x3 1 case with RP11-2F9+++,RP11-307C10+++ |
none
|
{0, 113, 121} 67450 68715 |
| 15- EHM-dup q11.2q11.2/ 1-2 |
psu
trc(15;15;13)(15pter->15q11.2::15p11.1->15q11.1::13p11.2->13qter) RP11-307C10 |
none
|
{0 - 78178} |
| 15- EHM-dup q11.2q11.2/ 2-1 |
dup(15)(q11.2q11.2) RP11-138C5, RP11-307C10 |
none |
{0} 65424 |
| 15- EHM-dup q11.2q11.2/ 2a-1 |
dup(15)(q11.2q11.2) ish der(15)(D15Z1+,D15Z3+,RP11-138C5+++, RP11-2F9+,RP11-307C10++++,RP11-1109N12+,RP11-380D11+) |
none |
{0} 68391 |
| 15- EHM-dup q11.2q11.2/ 2b-1 |
dup(15)(q11.2q11.2) (D15Z1+,RP11-69H14/RP11-816O23/RP11-2F9+/ RP11-603B24+++,RP11-467N20+,RP11-13O24+,RP11-289D12+/ RP11-307C10+/RP11-80H14+,RP11-26F2+,RP11-307C10+,RP11-107O19+/ RP11-1107D8+,RP11-73C9+,RP11-570N16+) |
none |
{0} 75709 |
| 15- EHM-dup q11.2q11.2/ 2c-1 |
dup(15)(q11.2q11.2) (D15Z1+,RP11-69H14+/RP11-816O23+/RP11-2F9+/ RP11-603B24+++,RP11-467N20+,RP11-13O24+,RP11-289D12+/ RP11-307C10+/ RP11-80H14+,RP11-26F2+,RP11-307C10+, RP11-107O19+/RP11-1107D8+++,RP11-73C9+,RP11-570N16+) |
none |
{0} 73179 |
| 15- EHM-dup q11.2q11.2/ 3-1 to 3-2 |
dup(15)(q11.2q11.2) RP11-2F9, RP11-138C5 |
none,
infertile |
{0} 60378, 67368 |
| 15- EHM-dup q11.2q13/ 1-1 |
dup(15)(q11.2q13) RP11-138C5 |
none
|
{1} |
| 15- EHM-dup q11.2q13/ 2-1 |
der(15)(D15Z1+),(RP11-2F9)amp,(RP11-138C5)amp,(RP11-307C10+),RP11-1109N12(amp),(RP11-380D11+) |
none |
{0-61015} |