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CHROMOSOME 13 -
| 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 |
| 13- p13-p12/ 1-1 to several |
dup(13)(p13p12) |
none |
{1, page 42} |
| 13- p13+/ 1-1 to several |
der(13)(p13amp) |
none |
{1} |
| 13- p13-/ 1-1 to few |
del(13)(p13)
or del(13)(p13p13) |
none |
{1, pages 51-52} |
| 13- p12-/ 1-1 to few |
del(13)(p12)
or del(13)(p12p12) NOR |
none |
{1, pages 51-52} |
| 13- p11.2+/ 1-1 to several |
der(13)(p11.2amp) |
none |
{1} |
| 13- p11.2-/ 1-1 to few |
del(13)(p11.2)
or del(13)(p11.2p11.2) |
none |
{1, pages 51-52;
118} |
| 13- cen+/ 1-1 to many |
13cen+ D13Z1 |
none |
{1, pages 70-71} |
| 13- cen-/ 1-1 to many |
13cen- D13Z1 is weakly present in ~0.12% of general population (FISH-signal can be completely absent) |
none |
{1, pages 70-71} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 13- HHM- owncep/ 1-1 to many |
D13Z1
= D21Z1 gives always signals 21p11.1q11.1 |
none |
{1} |
| 13- HHM- owncep/ 2-1 |
D13Z1/D21Z1
was inserted in / translocated to 14;
15; 22 |
none |
{1, page 81; 8;
48-54} |
| 13- HHM- 15p11.2/ 1-1 - many |
der(13)t(13;15)(p11.1;p11.1) D15Z1 signal on one #13 |
none |
{1, pages 45-46} |
| 13- HHM- Yq12/ 1-1 |
der(13)t(Y;13)(q12;p11.2)
in 1/23 = 4% of cases with t(Y;acro) |
none |
{3; 1, page 47} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 13- EHM-del q14q14/ 1-1 |
del(13)(q14q14) |
none |
{1} |
| 13- EHM-del q14.1q21.3/ 1-1 |
del(13)(q14.1q21.3) |
none |
{1} |
| 13- EHM-del q14.1q22.1/ 1-1 |
del(13)(q14.3q21.2;q22.1q22.1) |
mild
to moderate |
{1} |
| 13- EHM-del q21q21/ 1-1 |
del13)(q21q21) |
none |
{1} |
| 13- EHM-del q21.1q21.2/ 1-1 |
del13)(q21.1q21.2) hg19: 56.30-61.93 Mb |
none |
{0 -
57807} |
| 13- EHM-del q21.1q21.31/ 1-1 |
del(13)(q21.1q21.31) |
none |
{1} |
| 13- EHM-del q21.1q21.33/ 1-1 |
del(13)(q21.1q21.33) |
none |
{1} |
| 13- EHM-del q31.1q31.3/ 1-1 |
del(13)(q31.1q31.1) |
mild
to moderate |
{1} |
| 13- EHM-del q34qter/ 1-1 |
del(13)(q34) |
mild
to moderate |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 13- EHM-dup pterq12.11/ 1-1 to few |
sSMC(13) |
none |
{sSMC page} |
| 13- EHM-dup q13q14.3/ 1-1 |
dup(13)(q13q14.3) |
none |
{1} |
| 13- EHM-dup q14.2q21.1/ 1-1 |
dup(13)(q14.2q21.1) |
none |
{1} |
| 13- EHM-dup q14.2q21.2/ 1-1 |
dup(13)(q14.2q21.2) |
none |
{0 - 270-01} |
| 13- EHM-dup q21.1q21.32/ 1-1 |
dup(13)(q21.1q21.32) |
none |
{1} |
| 13- EHM-dup q21.1q21.33/ 1-1 |
dup(13)(q21.1q21.33) |
mild
to moderate |
{1} |
| 13- EHM-dup q21.31q31.1/ 1-1 |
dup(13)(q21.31q31.1) |
mild
to moderate |
{1} |
| 13- EHM-dup q21.31q221/ 1-1 |
dup(13)(q21.31q22.1) aCGH(hg19): 63.60~63.65 to 74.53–74.61 |
none |
{80} case 3 |
| 13- EHM-dup q22q34/ 1-1 |
dup(13)(q22q34) |
mild
to moderate |
{1} |
| 13- EHM-dup q34qter/ 1-1 |
der(1)t(1;13)(q44;q34) PAC 163C9 |
none |
{74} |