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CHROMOSOME 3 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 03- p11.1+/ 1-1 to many |
der(3)(p11.1amp) best visible in Q-banding or inverted DAPI-banding |
none |
{1, pages 60-61} |
| 03- p11.1-/ 1-1 to few |
del(3)(p11.1p11.1) best visible in Q-banding or inverted DAPI-banding |
none |
{1, pages 60-61} |
| 03- cen+/ 1-1 to few |
3cen+ D3Z1 |
none |
{1, pages 60-61} |
| 03- cen+/ 2-1 |
dup(3)(p11q11.2) | none |
{0-51939} |
| 03- cen-/ 1-1 to few |
3cen- D3Z1 |
none |
{1, pages 60-61} |
| 03- q11.1-q11.2+/ 1-1 to many |
der(3)(q11.1q11.2amp) best visible in Q-banding or inverted DAPI-banding |
none |
{1, pages 60-61} |
| 03- q11.1-q11.2-/ 1-1 to few |
del(3)(q11.1q11.2) best visible in Q-banding or inverted DAPI-banding |
none |
{0; 1, pages
60-61} |
| 03- inv/ 1-1 to many |
inv(3)(p11.2~13q12) frequency 2% in general population |
none |
{1, pages 60-61} |
| 03- inv/ 2-1 to few |
inv(3)(p12q24) frequent in Finland |
none |
{1, page 61; 41} |
| 03- inv/ 3-1 |
inv(3)(p11q11) |
none |
{1, page 61; 40} |
| 03- inv/ 4-1 |
inv(3)(q11.1q11.2) |
none |
{0} |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 03- HHM- acro/ 1-1 |
ins(3;acro)(q1?2;p11.2p11.2) |
none |
{0} |
| 03- HHM- acro/ 2-1 to 2-2 |
der(3)t(3;acro)(q29;p11.2) |
none |
{0; 1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 03- EHM-del p26.3p25?.3/ 1-1 to 1-4 |
del(3)(p26.3p25?.3) |
none |
{1; 77} |
| 03- EHM-del p26.3p25?.3/ 2-1 to 2-2 |
del(3)(p26.3p25?.3) |
mild
to moderate |
{1} |
| 03- EHM-del p26.3/ 3-1 |
del(3)(p26.3) |
mild
to moderate |
{1} |
| 03- EHM-del p26.1/ 1-1 |
del(3)(p26.1) |
none |
{1; 68} |
| 03- EHM-del p12.3p11.2/ 1-1 |
del(3)(p12.3p11.2) |
mild
to moderate |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 03- EHM-dup p26.3/ 1-1 |
duplication
detected by aCGH: hg19: 1-1,153848 Mb confirmed by subtel-FISH |
none |
{0-69674} |
| 03- EHM-dup p12.3/ 1-1 |
duplication
detected by aCGH: hg18:74,756,515-78,199,925 |
none |
{58} |
| 03- EHM-dup p12.3q13.11/ 1-1 to few |
sSMC(3) |
none |
{sSMC page} |
| 03- EHM-dup q24q24/ 1-1 |
dup(3)(q24q24) |
none |
{0 - 60475} |
| 03- EHM-dup q25q25/ 1-1 |
dup(3)(q25q25) |
none |
{1, page 88} |
| 03- EHM-dup q25.3q26.2/ 1-1 |
dup(3)(q25.3q26.2) |
mild
to moderate |
{1,
page 88} |
| 03- EHM-dup q28q29/ 1-1 |
dup(3)(q28q29) |
none |
{1, page 88} |
| 03- EHM-dup q29q29/ 1-1 |
dup(3)(q29q29) (probe not specified) |
none |
{75} |
| 03- EHM-dup q29q29/ 2-1 |
dup(3)(q29q29) (aCGH (hg19): 197,016,565-197,766,791) |
none |
{0 -52800} |