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Uniparental disomy

   Also found in: Acronyms, Encyclopedia, Wikipedia 0.01 sec.
Uniparental disomy
Chromosome abnormality in which both chromosomes in a pair are inherited from the same parent.
Mentioned in: Prader-Willi Syndrome
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Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.
Evidence of genetic effects on blood lead concentration by Whitfield, John B.; Dy, Veronica; McQuilty, Robert; Zhu, Gu; Montgomery, Grant W.; Ferreira, Manuel / Environmental Health Perspectives
More specifically, genetic mechanisms include maternal deletion, paternal uniparental disomy (UPD, two copies of the chromosome from the father), imprinting mutations, UBE3A gene mutation, and other chromosomal abnormalities of this region.
Sensory processing patterns in persons with Angelman syndrome by Walz, Nicolay Chertkoff; Baranek, Grace T. / AJOT: American Journal of Occupational Therapy
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).
Vocational guidance and employment of persons with a diagnosis of ... by Harper, Dennis C. / The Journal of Rehabilitation
 
 
 
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