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 |
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CHROMOSOME 4 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 04- p11.1+/ 1-1 to many |
der(4)(p11.1amp) best/only visible in Q-banding or inverted DAPI-banding |
none - both variants together present in ~8% of population |
{1, pages 61-62;
42} |
| 04- p11.1q11.1+/ 1-1 to many |
der(4)(p11.1q11.1amp) best/ only visible in Q-banding or inverted DAPI-banding |
{1, pages 61-62; 42} |
|
| 04- cen+/ 1-1 to many |
4cen+ D4Z1 some of them may give impression of small pericentric inv in GTG-banding |
none |
{1, pages 61-62} |
| 04- cen-/ 1-1 to many |
4cen- D4Z1 |
none |
{1, pages 61-62} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 04- HHM- owncep/ 1-1 to few |
D4Z1 can give signals on centromere 9 |
none |
{1, pages 61-62} |
| 04- HHM- acro/ 1-1 to few |
der(4)t(4;acro)(q35.2;p11.2p11.2)
|
none |
{1; 19-23; 34; 98
(case 4qs 2)} |
| 04- HHM- acro/ 1-1 to 1-2 |
der(4)t(4;acro)(p16.3;p11.2)
|
none |
{99; 100} |
| 04- HHM- acro/ 2-1 |
ins(4;acro)(q34.2;p12p12) |
none |
{1; 14} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 04- EHM-del pterp16.3/ 1-1 to 1-4 |
del(4)(p16.3) |
none
(in mother of affected child) |
{1} |
| 04- EHM-del p16.3p15.33/ 1-1 to 1-4 |
del(4)(p16.3p15.33) |
mild
to moderate |
{1} |
| 04- EHM-del p16.1p15.2/ 1-1 |
del(4)(p16.1p15.2) |
mild
to moderate |
{1} |
| 04- EHM-del p15.31p12/ 1-1 |
del(4)(p15.2~15.31p12~13) |
none |
{0} 56289 |
| 04- EHM-del q32q33/ 1-1 |
del(4)(q32q33) |
mild
to moderate |
{1} |
| 04- EHM-del q33qter/ 1-1 |
del(4)(q33) |
mild
to moderate |
{1} |
| 04- EHM-del q33q35.1/ 1-1 |
del(4)(q33q35.1) |
mild
to moderate |
{1} |
| 04- EHM-del q34qter/ 1-1 |
del(4)(q33) |
mild
to moderate |
{1} |
| 04- EHM-del q34.1q34.3/ 1-1 to 1-2 |
del(4)(q34.1q34.3) |
none
/ mild to moderate |
{1} |
| 04- EHM-del q34.1~34.2/ 1-1 to 1-2 |
del(4)(q34.1~q34.2) |
none |
{1, Color Plate 4,
XIb} |
| 04- EHM-del q35.1qter/ 1-1 |
del(4)(q35.1) |
mild
to moderate |
{1} |
| 04- EHM-del q35.1q35.2/ 1-1 to few |
del(4)(q35.1q35.2) |
none |
{66; 67; 77} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 04- EHM-dup p16.3q16.3/ 1-1 |
der(22)t(4;22)(p16.3;p1?2) |
none |
{77} |
| 04- EHM-dup p16.2q16.1/ 1-1 |
dup(4)(p16.2p16.1) |
mild
to moderate |
{1, page 89} |
| 04- EHM-dup p16.1q16.1/ 1-1 to few |
dup(4)(p16.1p16.1) RP11-637J21, RP11-751L19, RP11-264E23, RP11-180A12 |
none or mild to moderate |
{1, page 89} |
| 04- EHM-dup p13q13.1/ 1-1 to few |
sSMC(4) |
none |
{sSMC page} |
| 04- EHM-dup q22.1q22.1/ 1-1 |
dup(4)(q22.1q22.1) position hg19/GRCh37: 88,347,368-93,602,855 |
none |
{131} |
| 04- EHM-dup q34.2q35.2/ 1-1 to few |
dup(4)q34.2q35.2
position hg19/GRCh37: 176,956,406-189,189,971 |
none |
{131} |
| 04- EHM-dup 4q34.3q35.2/ 1-1 to few |
4q34.3q35.2
position hg19/GRCh37: 180,613,345-189,353,740 |
none |
{131} |
| 04- EHM-dup q35qter/ 1-1 to 1-6 |
variant
sizes of duplications in this region |
none
(2 families) or mild to moderate (4 families) |
{1, pages 89-91} |