 |
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CHROMOSOME 22 -
| 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 |
| 22- p13-p11.2/ 1-1 |
der(22)(pter→p11.2::p13→p11.2::p13→qter) |
none |
{1; Color Plate 2,
I} |
| 22- p13-p12/ 1-1 to several |
dup(22)(p13p12) |
none |
{1, page 42} |
| 22- p13+/ 1-1 to several |
der(22)(p13amp) |
none |
{1} |
| 22- p13-/ 1-1 to few |
del(22)(p13)
or del(22)(p13p13) |
none |
{1, pages 51-52} |
| 22- p12+/ 1-1 to several |
der(22)(p12amp) NOR |
none |
{1} |
| 22- p12-/ 1-1 to few |
del(22)(p12)
or del(22)(p12p12) |
none |
{1, pages 51-52} |
| 22- p11.2+/ 1-1 to several |
der(22)(p11.2amp) D22Z4 or D22Z3 |
none |
{1} |
| 22- p11.2-/ 1-1 to few |
del(22)(p11.2)
or del(22)(p11.2p11.2) D22Z4 or D22Z3 |
none |
{1, pages 51-52} |
| 22- cen+/ 1-1 to many |
22cen+ D22Z1 |
none |
{1, pages 78-79} |
| 22- cen-/ 1-1 to many |
22cen- D22Z1 |
none |
{1, pages 78-79} |
| 22- inv/ 1-1 |
der(22)(pter→p13::p11.2→p11.2: :p11.2→p12::p11.2→qter) |
none |
{1; Color Plate 1,
VII} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 22- HHM- own cep/ 1-1 to many |
D22Z1
= D14Z1 gives always signals 14p11.1q11.1 |
{1} |
{1} |
| 22- HHM- own p-arm/ 1-1 |
22p11.2amp,22p11.2del |
none |
{0} |
| 22- HHM- 13p11.1q11- 21p11.1q11.1/ 1-1 to 1-7 |
der(21)t(13/21;22)(p11.1;p11.1) D13/21Z1 signal on one #22 |
none |
{1, page 81; 8;
49-54} |
| 22- HHM- 15p11.2/ 1-1 to multiple |
der(22)t(15;22)(p11.1;p11.1) D15Z1 signal on one #22 |
none |
{4; 1, page 46} |
| 22- HHM- 15p11.2/ 1-1 |
der(22)(15pter→15p11.2::15p13→15p11.2::22p1?2→22qter) D15Z1 signal 2 times on one #22 |
none |
{1; Color Plate 2,
II} |
| 22- HHM- acro/ 1-1 to few |
der(22)t(22;acro)(q22.3;p11.2)
|
none |
{0; 1; 119*} *119 does not report as such; but it only can be this variant |
| 22- HHM- acro/ 2-1 |
ins(22;acro)(q?;acro) |
none |
{1;37} |
| 22- HHM- 18p11.1q11.1/ 1-1 |
ins(22;18)(q10;p11.1q11.1) |
none |
{1, page 81} |
| 22- HHM- Yq12/ 1-1 to 1-7 |
der(22)t(Y;22)(q12;p11.2)
in 6/23 = 33% of cases with t(Y;acro) |
none |
{3; 1, page 47;
69} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 22- EHM-del pterq11.21/ 1-1 |
del(22)(pterq11.21) |
none |
{1} |
| 22- EHM-del pterq11.21/ 1-2 |
del(22)(pterq11.21)
due to a
der(9)t(9;22)(9pter→9qter::22q11.21→22qter) aCGH(hg19): only del in #22: break in 16.94~17.59 Mb |
none |
{80} case 4 |
| 22- EHM-del pterq11.2/ 1-1 |
del(22)(pterq11.2) |
mild
to moderate |
{1} |
| 22- EHM-del q11.2q11.2/ 1-1 |
del(22)(q11.2q11.2) |
mild
to moderate |
{1} |
| 22- EHM-del q13.3q13.3/ 1-1 |
del(22)(q13.3q13.3) |
mild
to moderate |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 22- EHM-dup pterq11.21/ 1-1 to few |
sSMC(22) |
none |
{sSMC page} |
| 22- EHM-dup pterq11.21/ 2-1 to few |
der(22)(pter→q11.21::p11.2→qter) |
none |
{0; 1} |