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1 using hemizygosity and 94 with homozygosity (isodisomy).
2 mosaicism, and several cases of uniparental isodisomy.
3 isodisomy and 4 had interstitial uniparental isodisomy.
4 niparental disomy have had complete paternal isodisomy.
5 al X disomy that is associated with maternal isodisomy.
6 0-Mb LOH segments, 4 had partial uniparental isodisomy and 4 had interstitial uniparental isodisomy.
7 ified and defined a chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion in an affecte
10 the first report of a functional maternal X isodisomy, and the largest X chromosome to escape inacti
11 that the cases with interstitial uniparental isodisomy arose in a leukemia-initiating cell by double-
12 ilson's disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mut
13 In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of
16 duals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65
17 ome 1q by observing two cases of uniparental isodisomy of 1q-the inheritance of both copies of this m
18 osteodystrophy who has paternal uniparental isodisomy of chromosome 20q and lacks the maternal-speci
19 in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity
21 We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TN
22 was caused by uniparental disomy (UPD) with isodisomy of the entire maternal Chr1 bearing the mutant
23 This finding demonstrates that uniparental isodisomy of the X chromosome is an additional mechanism
24 zygosity caused by autozygosity, uniparental isodisomy or hemizygosity play a major role in defining
25 rphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML sam
27 to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, domi
28 trated mosaic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that enco
30 the paternal uniparental disomy with partial isodisomy was caused by a meiosis II nondisjunction even
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