Disease or Syndrome
uniparental disomy
Subclass of:
Nondisjunction, Genetic; Chromosome Aberrations
Definitions related to uniparental disomy:
  • A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • Inheritance of both homologues of a chromosome pair from the same parent.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2021
  • The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
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