 |
 |
-
Y-CHROMOSOME -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 0Y- cen+/ 1-1 to few |
Ycen+ DYZ3 |
none |
{1, page 80} |
| 0Y- cen-/ 1-1 to few |
Ycen- DYZ3 |
none |
{1, page 80} |
| 0Y- inv/ 1-1 to many |
inv(Y)(p11.2q11.2) |
none |
{1, page 80} |
| 0Y- q12/ 1-1 to many |
Yqh+ DYZ1 |
none |
{1, page 10} |
| 0Y- q12/ 2-1 to many |
Yqh- DYZ1 0.09% - 0.78% in general male population sometimes mistaken with an sSMC {124} |
none |
{1, page 10; 68;
124} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0Y- HHM- own q12 1-1 to few to many |
DYZ1
was inserted in / added to 1; 7; 11; 13; 14; 15; 17; 21; 22 |
none |
{1} |
| 0Y- HHM- acro/ 1-1 to many |
der(Y)t(Y;acro)(q12;p11.2)
|
none |
{1, page 48} |
| 0Y- HHM- acro/ 2-1 |
der(Y)t(Y;acro)(p11.32;p11.2) |
none |
{1; 12} |
| 0Y- HHM- acro/ 3-1 |
ins(Y;acro)(q?;acro) |
none |
{1; 37} |
| 0Y- HHM- 15/ 1-1 to many |
der(Y)t(Y;15)(q12;p11.2) in ~50-80% of cases with t(Y;acro) acc. to {103} maybe 2 different variants included here maybe a 3rd. variant unpubl - 65044 |
none |
{103} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0Y- EHM-del pter-p11.32/ 1-1 to few |
del(Y)(p11.32) CY29 (cosmid) |
none |
{5} |
| 0Y- EHM-del pter-p11.32/ 1-1 |
del(Y)(p11.32) reduction of signal size |
none |
{77} |
| 0Y- EHM-del q12-qter/ 1-1 to 1-3 |
del(Y)(q12) only subtelomere |
none |
{77} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0Y- EHM-dup pter p11.32/ 1-1 |
dup(Y)(p11.32) CY29 (cosmid) |
none |
{5} |
| 0Y- EHM-dup pter-p11.32/ 1-1 to 1-4 |
Xp22.33
or Yq11.32 on Xq28 |
none |
{77} |
| 0Y- EHM-dup q12-qter/ 1-1 |
Xq28
or Yq12 on 20p13 |
none |
{77} |