Uniparental disomy (UPD) occurs when a person receives two copies of a
chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of
egg or
sperm cells or may happen in early
fetal development. It can also occur during
trisomic rescue. When the child receives the (two)
homologous chromosomes (inherited from both grandparents) from one parent, this is called an heterodisomic UPD. When the child receives, two (identical) replica copies of a single
homolog of a
chromosome, this is called an isodisomic UPD. Heterodisomy (
Heterozygous) indicates a
meiosis I error, whereas isodisomy (
homozygous) indicates either a
meiosis II error or postzygotic duplication.
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Inheritance of both homologues of a chromosome from one parent, with loss of the corresponding homologue from the other parent.
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