FISH
CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 15 -
|
mat or pat UPD cases without clinical findings and normal karyotype
| NO REPORTS YET |
mat or pat UPD cases without clinical findings and balanced karyotype
| NO REPORTS YET |
mat or pat UPD cases without clinical findings and sSMC
| NO REPORTS YET |
mat or pat UPD cases without clinical findings and other imbalances
| NO REPORTS YET |
mat or pat segmental UPD cases without clinical findings
| NO REPORTS YET |
mat or pat UPD cases with clinical findings or unclear correlation and normal karyotype
| NO REPORTS YET |
mat or pat UPD cases with clinical findings or unclear correlation and balanced karyotype
| NO REPORTS YET |
mat or pat UPD cases with clinical findings or unclear correlation and sSMC
| NO REPORTS YET |
mat or pat UPD cases with clinical findings or unclear correlation and other imbalances
| NO REPORTS YET |
mat or pat segmental UPD cases with or unclear clinical correlation
| case no. | gender | age at diagnosis | studied material |
GTG-banding result grade of mosaicism |
clinical symptoms | reference | ||
| 15-WU- seg/ 1-1 |
n.a. | n.a. | PBL | n.a. | severe global DD | {652}case 21 | ||
| exact localization not reported - only size of 6 MB | ||||||||
| 15-WU- seg/ 2-1 |
n.a. | n.a. | PBL | n.a. | hypotonia in newborn | {652}case 22 | ||
| exact localization not reported - only size of 30 MB | ||||||||
| 15-WU- seg/ 3-1 |
n.a. | n.a. | PBL | n.a. | ?PWS | {652}case 23 | ||
| exact localization not reported - only size of 34 MB | ||||||||