FISH
CASES WITH UNIPARENTAL DISOMY
- paternal UPD 12 -
|
pat UPD cases without clinical findings and normal karyotype
| NO REPORTS YET |
pat UPD cases without clinical findings and balanced karyotype
| NO REPORTS YET |
pat UPD cases without clinical findings and sSMC
| NO REPORTS YET |
pat UPD cases without clinical findings and other imbalances
| NO REPORTS YET |
pat segmental UPD cases without clinical findings
| NO REPORTS YET |
pat UPD cases with clinical findings or unclear correlation and normal karyotype
| NO REPORTS YET |
pat UPD cases with clinical findings or unclear correlation and balanced karyotype
| NO REPORTS YET |
pat UPD cases with clinical findings or unclear correlation and sSMC
| NO REPORTS YET |
pat UPD cases with clinical findings or unclear correlation and other imbalances
|
case no. |
gender |
age at diagnosis |
studied |
GTG-banding result |
clinical symptoms |
reference |
||
| 12- WpU- imb/ 1-1 |
female | prenatal | AF, PBL, CH | 47,XX,+12/46,XX biparental inheritance in AF; pat UPD in CH |
advanced maternal age; normal liveborn | {107 } case C | ||
pat segmental UPD cases with or unclear clinical correlation
| NO REPORTS YET |