CASES WITH HETEROMORPHISMS
|
Heterochromatic |
Euchromatic |
||
Heterochromatic
(peri)centomeric variants
| case no. | (molecular) cytogenetic result |
clinical symptoms | reference | |||||
| 15- p13-p12/ 1-1 to several |
dup(15)(p13p12) | none | {1, page 42} | |||||
| 15- p13+/ 1-1 to several |
der(15)(p13amp) | none | {1} | |||||
| 15- p13-/ 1-1 to few |
del(15)(p13) or del(15)(p13p13) | none | {1, pages 51-52} | |||||
| 15- p12+/ 1-1 to 1-2 |
der(15)(p12amp) NOR |
none | {1} | |||||
| for further NOR-region variants principally possible but not specified for 13-15 or 21-22 yet see acro-chrs. |
||||||||
| 15- p12-/ 1-1 to few |
del(15)(p12) or del(15)(p12p12) NOR |
none | {1, pages 51-52} | |||||
| 15- p11.2+/ 1-1 to several |
der(15)(p11.2amp) | none | {1} | |||||
| 15- p11.2-/ 1-1 to few |
del(15)(p11.2) or del(15)(p11.2p11.2) | none | {1, pages 51-52} | |||||
| 15- cen+/ 1-1 to many |
15cen+ D15Z3 in 15q11.1 (can also be in D15Z4 in 15p11.1) |
none | {1, pages 72-73} | |||||
| 15- cen-/ 1-1 to few |
15cen- D15Z3 in 15q11.1 (can also be in D15Z4 in 15p11.1) |
none | {1, pages 72-73} | |||||
| 15- inv/ 1-1 |
inv(15)(p12p13) | none | {1, Color Plate 1, VI} | |||||
| 15- inv(dup)/ 2-1 |
der(15)(:p11.1→p13::p13→qter) | none | {0} | |||||
other heterochromatic variants
| case no. | (molecular) cytogenetic result | clinical symptoms | reference | |||||
| 15- HHM-owncep/ 1-1 |
D15Z1 was inserted in 13, 14, 21, 22; has already been seen on 2 add. acrocentrics simultanously |
{1; 8} | ||||||
| 15- HHM-13p11.1q11- 21p11.1q11.1/ 1-1 |
der(15)t(13/21;15)(p11.1;p11.1) D13/21Z1 signal on one #15 |
none | {1, page 81; 8, 49} | |||||
| 15- HHM-acro/ 1-1 |
der(15)t(15;acro)(q26.3;p11.2) | none | {0;1} | |||||
| 15- HHM-Yq12/ 1-1 to 1-17 |
der(15)t(Y;15)(q12;p11.2) in 13/23 = 52% of cases with t(Y;acro) | none | {3; 4 1, page 47; 70} | |||||
| 15- HHM-Yq12/ 2-1 |
ins(15;Y)(q10;q12q12) | none | {1, page 83; 61} | |||||
Euchromatic
Euchromatic deletions
| case no. | (molecular) cytogenetic result | clinical symptoms | reference | |||||
| 15-EHM- del q11q12/ 1-1 |
del(15)(q11q12) RP11-138C5 |
mild to moderate | {1} | |||||
Euchromatic duplications
| case no. | (molecular) cytogenetic result | clinical symptoms | reference | |||||
| 15-EHM- dup pterq11.2/ 1-1 to 1-2 |
der(15)t(13;15)(q1?1;q11.2) | none, infertile |
{1; 8} | |||||
| 15-EHM- dup q11.2q13/ 1-1 to multiple |
dup(15)(q11.2q13) RP11-138C5 |
none | {1} | |||||
| 15-EHM- dup pterq11.2/ 1-3 to many |
sSMC(15) | none | {sSMC page} |
|||||