 |
 |
-
CHROMOSOME 21 -
| 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 |
| 21- p13-p12/ 1-1 to several |
dup(21)(p13p12) |
none |
{1, page 42} |
| 21- p13-q11/ 1-1 to 1-2 |
dup(21)(p13q11) |
none |
{1; 6; 7} |
| 21- p13-q11/ 1-3 |
dup(21)(p13q11) |
none |
{1; Color Plate 1,
VIII) |
| 21- p13+/ 1-1 to several |
der(21)(p13amp) |
none |
{1} |
| 21- p13-/ 1-1 to few |
del(21)(p13)
or del(21)(p13p13) |
none |
{1, pages 51-52} |
| 21- p12+/ 1-1 to few |
der(21)(p12amp) NOR |
none |
{1 - 75311} |
| 21- p12-/ 1-1 to few |
del(21)(p12)
formerly called 'Christchurch-chr.' or del(21)(p12p12) |
none |
{1, pages 51-52} |
| 21- p11.2+/ 1-1 to few |
der(21)(p11.2amp) |
none |
{0} |
| 21- p11.2-/ 1-1 to few |
del(21)(p11.2)
or del(21)(p11.2p11.2) |
none |
{1, pages 51-52} |
| 21- cen+/ 1-1 to many |
21cen+ D21Z1 present in 13% of general population |
none |
{1, pages 77-78} |
| 21- cen-/ 1-1 to many |
21cen- D21Z1 present in 3.7% of general population as complete absence of signal 20% of chr. 21 have cen- |
none |
{1, pages 77-78} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 21- HHM- own cep/ 1-1 to many |
D31Z1
= D21Z1 gives always signals
13p11.1q11 |
none |
{1, color plate 1, VIIIb) |
| 21- HHM- own cep/ 2-1 |
D13Z1/D21Z1
was inserted in / translocated to 14;
15; 22 |
none |
{1 page 81; 8, 48-54} |
| 21- HHM- own p-arm/ 1-1 |
der(21)(pter→p10::p11.2→qter) |
none |
{1, color plate 1, VIIIb) |
| 21- HHM- 15p11.2/ 1-1 to multiple |
der(21)t(15;21)(p11.1;p11.1) D15Z1 signal on one #21 |
none |
{4; 1, page 46} |
| 21- HHM- 15p11.2/ 2-1 |
der(21)(15pter→15q11.1: :15p13→15q11.1: :21p13→21qter) |
none |
{1; 9} |
| 21- HHM- acro/ 1-1 to 1-3 |
der(21)t(21;acro)(q22.3;p11.2)
|
none |
{0; 1; 98 (case
21qs)} |
| 21- HHM- Yq12/ 1-1 to 1-2 |
der(21)t(Y;21)(q12;p11.2)
in 2/23 = 7% of cases with t(Y;acro) |
none |
{3; 1, page 47} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 21- EHM-del pterq21.2/ 1-1 |
del(21)(pterq21.2) |
mild
to moderate |
{1} |
| 21- EHM-del q11q21.3/ 1-1 |
del(21)(q11q21.3) |
none |
{1} |
| 21- EHM-del q21.1qter/ 1-1 |
del(21)(q21.1) |
none |
{1} |
| 21- EHM-del q22.3qter/ 1-1 to few |
del(21)(q22.3) |
none |
{1; 77} |
| 21- EHM-del q22.3qter/ 2-1 |
del(21)(q22.3) aCGH break in 44.722963 Mb |
none |
{0 - 44619} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 21- EHM-dup pterq21.1/ 1-1 to few |
sSMC(21) |
none |
{sSMC page} |
| 21- EHM-dup q11.2~21.1q21.2/ 1-1 |
dup(21)(q11.2~21.1q21.2) |
none |
{0 - 27655} |
| 21- EHM-dup q13.3q22/ 1-1 |
dup(21)(q22q13.3) |
mild
to moderate |
{1} |
| 21- EHM-dup q22.3qter/ 1-1 to 1-3 |
dup(21)(q22.3qter) due to unbal. t(19;21) or unbal. t(21;22) |
none |
{0-
42481; 67} |