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 |
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CHROMOSOME 5 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 05- cen-/ 1-1 to few |
5cen+ D5Z2 (stains 5p11 only!) = D1Z7 = D19Z3 |
none |
{1, pages 62-63} |
| 05- q11.1+/ 1-1 to many |
der(5)(q11.1amp) best visible in Q-banding or inverted DAPI-banding |
none |
{1, pages 62-63} |
| 05- q11.1-/ 1-1 to few |
del(5)(q11.1q11.1) best visible in Q-banding or inverted DAPI-banding |
none |
{1, pages 62-63} |
| 05- inv/ 1-1 to few |
inv(5)(p12~13q13) |
none
to controversially discussed in literature |
{1, pages 62-63} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 05- HHM- owncep/ 1-1 to many |
D5Z2
(stains 5p11 only!) gives always signals on 1p11.1q11 (=D1Z7) and 19p11.1 (=D19Z3) |
none |
{1} |
| 05- HHM- 9q12/ 1-1 to 1-2 |
ins(5;9)(q11.1;q12q12) |
none |
{1, page 63; 44;
45} |
| 05- HHM- 9q12/ 2-1 |
ins(5;9)(q1?4;q12q12) |
none |
{0-53528} |
| 05- HHM- acro/ 1-1 |
der(5)t(5;acro)(q35.3;p11.2)
|
none |
{98 (case 5qs)} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 05- EHM-del pterp15.3/ 1-1 |
del(5)(p15.3) |
none |
{1} |
| 05- EHM-del pterp15.3~.2/ 1-1 |
del(5)(p15.3~15.2) |
mild
to moderate |
{1} |
| 05- EHM-del pterp15.2/ 1-1 |
del(5)(p15.2) |
mild
to moderate |
{1} |
| 05- EHM-del p15.1p15.1/ 1-1 |
del(5)(p15.1p15.1) aCGH(hg19)-chr5:123,798,118-130,432,974 in same chr. insertion and thus three copies of 2p14.1 aCGH(hg19)-chr2: 65,237,764-66,484,321 |
none | {83} case III-5 |
| 05- EHM-del p14p14/ 1-1 |
del(5)(p14p14) |
none |
{1} |
| 05- EHM-del q13.2p13.2/ 1-1 |
del(5)(q13.2q13.2) aCGH (hg19): 68.94-70.59 Mb |
none |
{78} |
| 05- EHM-del q14.3q15/ 1-1 |
del(5)(q14.3q15) | none |
{0} - 61791 |
| 05- EHM-del q14.3q21.3/ 1-1 |
del(5)(q14.3q21.3) | mild
to moderate |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 05- EHM-dup p15.33/ 1-1 to mutiple |
114j18
(BAC) can produce add. signals on
acro-p-arms |
none |
{5} |
| 05- EHM-dup p15.33p15.1/ 1-1 |
dup(5)(p15.33p15.1) |
mild
to moderate |
{1, pages 89-90} |
| 05- EHM-dup p15.33p14/ 1-1 |
dup(5)(p15.33p14) |
mild
to moderate |
{1, pages 89-90} |
| 05- EHM-dup p13.1q11.2/ 1-1 to few |
sSMC(5) |
none |
{sSMC page} |
| 05- EHM-dup q15q21/ 1-1 to 1-2 |
dup(5)(q15q21) |
none
(1 family) mild to moderate (1 family) |
{1, pages 89-90} |
| 05- EHM-dup q35.3q35.3/ 1-1 to 1-3 |
dup(5)(q35.3q35.3) |
mild
to moderate |
{1, pages 89-90,
67368} |
| 05- EHM-dup q35.3/ 1-1 to multiple |
B22a4
(cosmid) can produce add. signals on
acro-p-arms |
none |
{5} |