Article
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
American journal of medical genetics. Part A - 1 Jul 2023
Polonis Katarzyna, Lopes Jaime L, Cabral Huong, Babcock Holly E, Kline Laura, Ruiz Kaylee M, Schwartz Stuart, Hasadsri Linda, Rowsey Ross A, Hoppman Nicole L, Grant Christina L.
Abstract excerpt
Uniparental disomy (UPD) is the inheritance of both chromosomal homologs from one parent. Depending on the chromosome involved and the parental origin, UPD may result in phenotypic abnormalities due to aberrant methylation patterns or unmasking recessive conditions in isodisomic regions. UPD primarily originates from somatic rescue of a single meiotically-derived aneuploidy, most commonly a trisomy. Double UPD is...
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