 |
 |
-
X-CHROMOSOME -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 0X- cen+/ 1-1 to few |
Xcen+ DXZ1 |
none |
{1, pages 79-80} |
| 0X- cen-/ 1-1 to few |
Xcen- DXZ1 (complete absence of FISH signal reported) |
none |
{1, pages 79-80} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0X- HHM- own cep/ 1-1 |
DXZ1
material was inserted in 19, 1/12/17 |
none |
{1, page 81; 59;
60} |
| 0X- HHM- 1q12/ 1-1 |
ins(X;1)(q21;q12q12) |
none |
{1; 47}
|
| 0X- HHM- acro/ 1-1 |
mos
45,X/ 46,X,der(X)t(X;acro)(p2?2;p11.2) |
Turner |
{10} |
| 0X- HHM- acro/ 2-1 to 2-2 |
46,X,der(X)t(X;acro)(q28;p11.2)
|
none |
{1; 0 - 53526}
provided from Heidelberg, Germany |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0X- EHM-del pter-p22.33/ 1-1 to few |
del(X)(p22.33) CY29 (cosmid) (in {75} probe not specified) |
none |
{5; 74; 75; 77} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 0X- EHM-dup pter-p22.33/ 1-1 |
dup(X)(p22.33) CY29 (cosmid) |
none |
{5} |
| 0X- EHM-dup pter-p22.33/ 1-1 to 1-4 |
Xp22.33
or Yp11.32 on Xq28 |
none |
{77} |
| 0X- EHM-dup q28-qter/ 1-1 |
Xq28
or Yq12 on 20p13 |
none |
{77} |
| 0X- EHM-dup q28-qter/ 2-1 |
Xq28
or Yq12 on Xp22.33 |
none |
{77} |