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 |
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CHROMOSOME 12 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 12- p11.1+/ 1-1 to many |
der(12)(p11.1amp) best visible in C-or Q-banding or inverted DAPI-banding |
none |
{1, pages 69-70} |
| 12- q11+/ 1-1 to many |
der(12)(q11amp) best visible in C- or Q-banding or inverted DAPI-banding |
none |
{1, pages 69-70} |
| 12- cen+/ 1-1 to many |
12cen+ D12Z3 |
none |
{1, pages 69-70} |
| 12- cen-/ 1-1 to few |
12cen- D12Z3 |
none |
{1, pages 69-70} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 12- HHM- acro/ 1-1 to 1-5 |
der(12)t(12;acro)(p13.33;p11.2)
|
none |
{1; 27} |
| 12- HHM- acro/ 2-1 |
ins(12;acro)(p11.1;acro) |
none |
{1; 36} |
| 12- HHM Xp11.1q11.1/ 1-1 |
ins(1;X)(q10;p11.1q11.1), ins(12;X)(q10;p11.1q11.1), ins(17;X)(q10;p11.1q11.1) |
none |
{1, page 81; 60} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 12- EHM-del pterp13.33/ 1-1 |
del(12)(p13.33) |
mild
to moderate |
{1} |
| 12- EHM-del pterp13.31/ 1-1 |
del(12)(p13.31) |
mild
to moderate |
{1} |
| 12- EHM-del q21.1q21.2/ 1-1 |
del(12)(q21.1q21.2) position hg19/GRCh37: 72.309057-78.279854 |
none |
{0} 68344 |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 12- EHM-dup p13.32p13.31/ 1-1 |
dup(12)(p13.32p13.31) |
none |
{1} |
| 12- EHM-dup p12.3p11.2/ 1-1 |
dup(12)(p12.3p11.2) |
mild
to moderate |
{1} |
| 12- EHM-dup p12.3p11.2/ 1-1 |
dup(12)(p12.2p12.2) ~19-22 Mb |
none |
{0 - 32914} |
| 12- EHM-dup p13.33/ 1-1 to multiple |
496a11
(PAC) can produce add. signals on 6pter and
20qter- |
none |
{5} |
| 12- EHM-dup p12.1q12/ 1-1 to few |
sSMC(12) |
none |
{sSMC page} |
| 12- EHM-dup q21.32q22/ 1-1 |
dup(12)(q21.32q22) |
none |
{1} |
| 12- EHM-dup q24.33q24.33/ 1-1 |
dup(12)(q24.33q24.33) |
mild
to moderate |
{1} |