FISH
CASES WITH UNIPARENTAL DISOMY
- paternal UPD X -
|
- in 25% of Turner syndrome patients remaining X-chromosome is of paternal origin {443} leading to more social adaptation {526}
- skewed X-chromosome inactivation might be considered as kind of UPD - see Ref {244}
mat UPD cases without clinical findings and normal karyotype
|
case no. |
gender |
age at diagnosis |
studied |
GTG-banding result |
clinical symptoms |
reference |
||
| 0X-OpU- N/1-1 |
female | 28y | PBL | 46,XX pat transmission of both X |
recurrent miscarriages (iso-UPD X) | {619} case 16 | ||
mat UPD cases without clinical findings and balanced karyotype
| NO REPORTS YET |
mat UPD cases without clinical findings and sSMC
| NO REPORTS YET |
mat UPD cases without clinical findings and other imbalances
| NO REPORTS YET |
mat segmental UPD cases without clinical findings
| NO REPORTS YET |
mat UPD cases with clinical findings or unclear correlation and normal karyotype
|
case no. |
gender |
age at diagnosis |
studied |
GTG-banding result |
clinical symptoms |
reference |
||
| 0X- WpU-N/ 1-1 |
male | n.a. | n.a. | 46,XY pat transmission of X and Y |
hemophilia A | {396} | ||
| 0X- WpU-N/ 2-1 |
female | n.a. | n.a. | 46,XX pat transmission of both X |
Mild MR, short stature, hypotonia | {411} 1 case | ||
mat UPD cases with clinical findings or unclear correlation and balanced karyotype
| NO REPORTS YET |
mat UPD cases with clinical findings or unclear correlation and sSMC
| NO REPORTS YET |
mat UPD cases with clinical findings or unclear correlation and other imbalances
|
case no. |
gender |
age at diagnosis |
studied |
GTG-banding result |
clinical symptoms |
reference |
||
| 0X- WpU- imb/ 1-1 to 4 |
male | n.a. | n.a. | 48,XXYY | n.a. | {250} 4 cases | ||
| 0X- WpU- imb/ 1-5 to 8 |
male | n.a. | n.a. | 48,XXYY | n.a. | {537-538} 4 cases | ||
| 0X- WpU- imb/ 2-1 |
male | n.a. | n.a. | 48,XXXY | n.a. | {538} 1 case | ||
mat segmental UPD cases with or unclear clinical correlation
| NO REPORTS YET |