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CHROMOSOME 18 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 18- p11.1+/ 1-1 to many |
der(18)(p11.1amp)
i.e. 18ph+ best visible in C-, Q-banding or inverted DAPI-banding |
none |
{1, pages 75-76} |
| 18- cen+/ 1-1 to many |
18cen+ D18Z1 in 18p11.1 |
none |
{1, pages 75-76} |
| 18- cen+/ 2-1 to many |
18cen+ D18Z2 in 18q11.1 may also be visible in C-, Q-banding or inverted DAPI-banding |
none |
{1, pages 75-76} |
| 18- cen-/ 1-1 to few |
18cen- D18Z1 in 18p11.1 (if available also possible with D18Z2) (signal can also be absent) |
none |
{1, pages 75-76} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 18- HHM- owncep/ 1-1 |
D18Z1
material was inserted in 1, 2, 9, 22 |
none |
{1, page 81;
55-57} |
| 18- HHM- acro/ 1-1 |
der(18)t(18;acro)(q23;p11.2) |
none |
{1, Color Plate 2,
Vc} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 18- EHM-del pterp11.3?2/ 1-1 |
del(18)(p11.3?2) |
none |
{1} |
| 18- EHM-del pterp11.31/ 1-1 to 1-2 |
del(18)(p11.31) acc. to {110} size is 4.538224 Mb |
none |
{1; 110} |
| 18- EHM-del pterp11.3/ 1-1 |
del(18)(p11.3) |
mild
to moderate |
{1} |
| 18- EHM-del pterp11.2/ 1-1 to 1-2 |
del(18)(p11.2) |
mild
to moderate |
{1} |
| 18- EHM-del pterp11.23/ 1-1 |
del(18)(p11.23) |
mild
to moderate |
{1} |
| 18- EHM-del pterp11.21/ 1-1 |
del(18)(p11.21) |
mild
to moderate |
{1} |
| 18- EHM-del q21.1q21.1/ 1-1 |
del(18)(q21.1q21.1) |
none |
{1} |
| 18- EHM-del q2?1qter/ 1-1 |
del(18)(q2?1) |
mild
to moderate |
{1} |
| 18- EHM-del q22.3qter/ 1-1 |
del(18)(q22.3) |
mild
to moderate |
{1} |
| 18- EHM-del q23qter/ 1-1 |
del(18)(q23) |
mild
to moderate |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 18- EHM-dup p11.32q11.2/ 1-1 to few |
dup(18)(p11.32q11.2) |
mild
to moderate |
{1; 93} |
| 18- EHM-dup p11.32q11.2/ 2-1 |
der(18)(pter->q23::p11.21->pter) |
none |
{0 - 40262} |
| 18- EHM-dup p11.32q13.3/ 1-1 |
dup(18)(p11.32p13.3) |
none |
{1} |
| 18- EHM-dup p11.22q11.1/ 1-1 |
psu
dic(18)(pter->q11.1::p11.21->qter) |
none |
{0 - 66740} |
| 18- EHM-dup p11.21q11.2/ 1-1 to few |
sSMC(18) |
none |
{sSMC page} |
| 18- EHM-dup q11.1q11.2/ 1-1 to few |
dup(18)(q11.1q11.2) position GRCh37/hg19: 18,540,000-23,840,000 |
none |
{114} |
| 18- EHM-dup p11.21q23/ 1-1 |
dup(18)(q11.2q23) | none |
{0}-40262 |
| 18- EHM-dup q11.2q12.2/ 1-1 |
dup(18)(q11.2q12.2) |
none |
{1} |
| 18- EHM-dup q21.31q22.2/ 1-1 |
dup(18)(q21.31q22.2) |
none |
{1} |
| 18- EHM-dup q21.21q22/ 1-1 |
dup(18)(q21.21q22) |
none |
{1} |
| 18- EHM-dup q21.33q23/ 1-1 |
dup(18)(q21.33q23) |
none |
{1} |