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Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy.
Identification of uniparental disomy (UPD), through detection of ROH;
In a smaller number of cases, the syndrome is the result of uniparental disomy in which the maternal contribution to chromosome 15q is replicated, replacing the paternal contribution (Knoll, Nicholls, Magenis, & Graham, 1989).
Some 30 percent of cases occur when both chromosome 15s are inherited from the individual's mother, a condition called uniparental disomy or UPD.
Because uniparental disomy is rare, Malcolm says, these parents can be assured that the syndromes "would be unlikely to recur.
They also identify long contiguous stretches of homozygosity, which may suggest an increased likelihood for a recessive condition or uniparental disomy (UPD).
Of further interest is the report describing uniparental disomy (UPD), the presence of both chromosomes inherited from 1 parent as the result of disomic rescue (54).