paternal uniparental disomy 18 (pat UPD 18)     

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UPD-cases without
clinical findings
+ normal karyotype
UPD-cases with or unclear
clinical correlation
+ normal karyotype
UPD-cases without
clinical findings
+ balanced karyotype
UPD-cases with or unclear
clinical correlation
+ balanced karyotype
UPD-cases without
clinical findings
+ sSMC
UPD-cases with or unclear
clinical correlation
+ sSMC
UPD-cases without
clinical findings
+
other imbalances
UPD-cases with or unclear
clinical correlation
+
other imbalances
Segmental
UPD-cases without
clinical findings
Segmental UPD-cases with or unclear
clinical correlation

 

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pat segmental UPD cases with or unclear clinical correlation:

case no. 

gender

age at diagnosis

studied 
material

GTG-banding result; grade of mosaicism
segmental UPD

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 
material

GTG-banding result
grade of mosaicism

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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