 |
 |
-
CHROMOSOME 8 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 08- cen+/ 1-1 |
8cen+ D8Z2 |
none |
{1, page 65} |
| 08- cen-/ 1-1 |
8cen+ D8Z2 |
none |
{1, page 65} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 08- HHM- acro/ 1-1 |
ins(8;acro)(p11.1;p11.2p11.2)
|
none |
{34} |
| 08- HHM- 9q12/ 1-1 to 1-2 |
ins(8;9)(q21.2~21.3;q12q12) |
none |
{0} provided by
Dr. Kelbova, Dresden, Germany |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 08- EHM-del pterp23.3~23.1/ 1-1 |
del(8)(p23.3~23.1) |
none |
{1} |
| 08- EHM-del pterp23.3/ 1-1 |
del(8)(p23.3) |
none |
{0} 67757 |
| 08- EHM-del p23.2p23.1/ 1-1 |
del(8)(p23.2p23.1) aCGH (hg19): 3.14~3.19-7.75~8.13 Mb |
none |
{80) fam 1 |
| 08- EHM-del pterp23.1/ 1-1 |
del(8)(p23.1) |
none |
{1} |
| 08- EHM-del q24.13q24.22/ 1-1 |
del(8)(q24.13q24.22) |
none |
{1} |
Heterchromatic 8p duplications may be mixed up with rearrangements like reported in {1} or elsewhere {79}.
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 08- EHM-dup pterp23.3/ 1-1 |
dup(8)(p23.3p23.3) |
none |
{77} |
| 08- EHM-dup p23.3p22/ 1-1 to 1-10 |
dup(8)(p23.3p22) RP11-122N11; RP11-24D9 |
none |
{1} |
| 08- EHM-dup p23.3p22/ 1-1 to 1-12 |
dup(8)(p23.3p22) |
mild
to moderate |
{1} |
| 08- EHM-dup p23.1/ 1-1 |
dup(8)(p23.1p23.1) aCGH(hg19): 8.08~8.13 to 11.723~11.724 Mb |
none |
{80} case 2 |
| 08- EHM-dup p11.2q11.23/ 1-1 to few |
sSMC(8) |
none |
{sSMC page} |
| 08- EHM-dup q21.2q2.12/ 1-1 to few |
dup
or amp(8)(q21.2q21.2) |
none |
{1 - see also 126} |
| 08- EHM-dup 8q24/ 1-1 to multiple |
2205a2
(cosmid) can produce add. signals on 1pter |
none |
{5} |