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 |
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CHROMOSOME 14 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
for further NOR-region variants principally possible but not specified for13-15 or 21-22 yet see acro-chrs.
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 14- p13-p12/ 1-1 to several |
dup(14)(p13p12) |
none |
{1, page 42} |
| 14- p13+/ 1-1 to several |
der(14)(p13amp) |
none |
{1} |
| 14- p13-/ 1-1 to few |
del(14)(p13)
or del(14)(p13p13) |
none |
{1, pages 51-52} |
| 14- p12+/ 1-1 to 1-3 |
der(14)(p12amp) NOR |
none |
{1} 68435 |
| 14- p12-/ 1-1 to few |
del(14)(p12)
or del(14)(p12p12) NOR |
none |
{1, pages 51-52} |
| 14- p11.2+/ 1-1 to several |
der(14)(p11.2amp) |
none |
{1} |
| 14- p11.2-/ 1-1 to few |
del(14)(p11.2)
or del(14)(p11.2p11.2) |
none |
{1, pages 51-52} |
| 14- cen+/ 1-1 to many |
14cen+ D14Z1 |
none |
{1, pages 70-71} |
| 14- cen-/ 1-1 to few |
14cen- D14Z1 |
none |
{1, pages 70-71} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 14- HHM- own acro/ 1-1 |
material
was inserted in 6 |
none |
{0} |
| 14- HHM- own cep/ 1-1 to many |
D14Z1
= D22Z1 gives always signals 22p11.1q11.1 |
none |
{1} |
| 14- HHM- 13p11.1q11- 21p11.1q11.1/ 1-1 to 1-2 |
der(14)t(13/21;14)(p11.1;p11.1) D13/21Z1 signal on one #14 |
none |
{1, page 81; 8;
48} |
| 14- HHM- 15p11.2/ 1-1 to many |
der(14)t(14;15)(p11.1;p11.1) D15Z1 signal on one #14 |
none |
{1, page 46} |
| 14- HHM- Yq12/ 1-1 |
der(14)t(Y;14)(q12;p11.2)
in 1/23 = 4% of cases with t(Y;acro) |
none |
{3; 1, page 47} |
| 14- HHM- acro/ 1-1 to 1-2 |
der(14)t(14;acro)(q23.33;p11.2) |
none |
{98 (case 14ps); 69166} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 14- EHM-del q12q13/ 1-1 |
del(14)(q12q13) |
mild
to moderate |
{1} |
| 14- EHM-del q31q31/ 1-1 |
del(14)(q31q31) |
mild
to moderate |
{1} |
| 14- EHM-del q32.33qter/ 1-1 |
del(14)(q32.33) reduction of signal size |
none |
{77} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 14- EHM-dup pterq11.2/ 1-1 to few |
sSMC(14) |
none |
{sSMC page} |
| 14- EHM-dup q24.3q31/ 1-1 |
dup(14)(q24.3q31) |
none |
{1} |
| 14- EHM-dup q13q22/ 1-1 |
dup(14)(q13q22) |
mild
to moderate |
{1} |
| 14- EHM-dup q32.33qter/ 1-1 |
der(3)t(3;14)(p26.3;q32.33) |
none |
{77} |