Whole-chromosome arm acquired uniparental disomy in cancer development is a consequence of isochromosome formation [PDF]
Neoplasia: An International Journal for Oncology Research, 2022 Using SNP-based microarray data from The Cancer Genome Atlas (TCGA), we investigated isochromosomes (deletion of one arm and duplication of the other arm) and related acquired uniparental disomy in 12 tumor types.
Musaffe Tuna +2 more
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Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes [PDF]
Frontiers in Genetics, 2022 A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparental origin that may harbour deleterious recessive ...
B. Molloy +13 more
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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome [PDF]
Human Genome Variation, 2022 We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat).
Atsushi Hattori +8 more
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Uniparental disomy is a chromosomic disorder in the first place [PDF]
Molecular Cytogenetics, 2022 Background Uniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by ‘activation’ of a recessive gene mutation or due to incomplete (cryptic) trisomic rescue.
Thomas Liehr
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Clinical features associated with maternal uniparental disomy for chromosome 6 [PDF]
Molecular CytogeneticsBackground Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
Jing-Wen Li +7 more
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Paternal uniparental disomy of chromosome 14 [PDF]
Journal of Perinatology, 2014 T E Herman
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Reciprocal uniparental disomy in yeast [PDF]
Proceedings of the National Academy of Sciences, 2012 In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single ...
Sabrina L, Andersen, Thomas D, Petes
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Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. [PDF]
PLoS ONE, 2016 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3.
Kaihui Zhang +7 more
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Italian Journal of Pediatrics, 2022 Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved.
Diana Miclea +9 more
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Pathogenesis and Consequences of Uniparental Disomy in Cancer [PDF]
Clinical Cancer Research, 2011 Abstract The systematic application of new genome-wide single nucleotide polymorphism arrays has demonstrated that somatically acquired regions of loss of heterozygosity without changes in copy number frequently occur in many types of cancer. Until recently, the ubiquity of this type of chromosomal defect had gone unrecognized because
Hideki, Makishima +1 more
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