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 |
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CHROMOSOME 2 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 02- cen+/ 1-1 to few |
2cen+ D2Z1 |
none |
{1, pages 59-60} |
| 02- cen+/ 1-2 |
2cen+ D2Z1 enh, D20Z2++ |
none |
{0 - 78525} |
| 02- cen-/ 1-1 to few |
2cen- D2Z1 |
none |
{1, pages 59-60} |
| 02- inv/ 1-1 to many |
inv(2)(p11.2q13) 4 variants reported, yet most frequent variant identifiable by RP11-153P14 / RP11-1429F20 and RP11-80K12 |
none |
{1, page 10; 39} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 02- HHM- acro/ 1-1 to 1-6 |
der(2)t(2;acro)(q37.3;p11.1) |
none |
{1; 9; 16-18; 100} |
| 02- HHM- acro/ 2-1 |
der(2)t(2;acro)(p35.4;p11.1) |
none |
{16; 100} |
| 02- HHM- Yq12/ 1-1 |
der(2)t(Y;2)(q12;q37.31) |
none |
{0-36427} |
| 02- HHM- 18p11.1q11.1/ 1-1 |
ins(2;18)(q10;p11.1q11.1) |
none |
{1, page 81; 56} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 02- EHM-del p12p12/ 1-1 to 1-2 |
del(2)(p12p12) |
none |
{1} |
| 02- EHM-del p12p11.2/ 1-1 to 1-2 |
del(2)(p12p11.2) |
none |
{1; 64} |
| 02- EHM-del q13q13/ 1-1 |
del(2)(q13q13) |
none |
{1} |
| 02- EHM-del q13q14.1/ 1-1 |
del(2)(q13q14.1) |
none |
{1} |
| 02- EHM-del q14.1p14.2/ 1-1 |
del(2)(q14.1q14.2) |
none |
{1} |
| 02- EHM-del q37.3/ 1-1 to multiple |
del(2)(q37.3qter) FISH: 210E14 (P1), 2112b2 (cosmid) PAC 1011O17 and/or P1 210E14 |
none |
{5;9; 68; 74} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 02- EHM-dup pterp25.2/ 1-1 |
der(7)t(2;7)(p25.2;q36.3) size in 2p: 6.1 Mb size in 7q: 1.1 Mb |
minor
clinical signs |
{0 46677} |
| 02- EHM-dup p14.1p14.1/ 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 |
| 02- EHM-dup p13.2q11.2/ 1-1 |
dup(2)(p13.2q11.2) |
none |
{102} case 8 |
| 02- EHM-dup p11.2q11.2/ 1-1 to few |
sSMC(2) |
none |
{sSMC page} |
| 02- EHM-dup q11.2q11.2/ 1-1 |
dup(2)(q11.1q11.2) position hg19/GRCh37: 95,327,873-102,088,148 |
none | {122} |
| 02- EHM-dup q11.2q21.1/ 1-1 |
dup(2)(q11.2q21.1) |
minor
clinical signs |
{1, page 86} |
| 02- EHM-dup q31.1q31.2/ 1-1 |
dup(2)(q31.1q31.2) |
minor
clinical signs |
{1, page 86} |
| 02- EHM-dup q32.3q33.1/ 1-1 |
dup(2)(q32.3q33.1) position hg19/GRCh37: 192,322,509-199,548,704 |
none |
{131} |
| 02-EHM- dup q37.3/ 1-1 to multiple |
dup(2)(q37.3qter) FISH: 210E14 (P1), 2112b2 (cosmid) |
none |
{5} |