paternal uniparental disomy 18 (pat UPD 18)
|
|
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pat segmental UPD cases with or unclear clinical correlation:
|
case no. |
gender |
age at diagnosis |
studied |
GTG-banding result;
grade of mosaicism |
clinical symptoms |
reference |
| 18-WpU-seg-pter/ 1-1 |
female | prenatal | PBL | 46,XX,rec(18)dup(p)inv(18)(p11.31q21.33)mat,rec(18)dup(q)inv(18)(p11.31q21.33)pat | normal female | {613}case 2 |
|
18pter to 18p11.31 mat hUPD 18q21.33 to 18qter pat hUPD |
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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 |
|
18-WpU-N/ 1-1 |
n.a. | 3y | PBL | n.a. | Delayed speech, overlapping 4th finger | {619} case 34 |
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