Uniparental disomy

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

Most occurrences of UPD result in no phenotypical anomalies. However, if the UPD causing event happens during meiosis I, the genotype may include identical copies of the uniparental chromosome, leading to the manifestation of rare recessive disorders. UPD should be suspected in a individual manifesting a recessive disorder, where only one parent is a carrier. Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. Few imprinted genes have been identified, however uniparental inheritance of an imprinted gene can result in the loss of gene function can lead to delayed development, mental retardation, or other medical problems. The most well-known conditions include Prader-Willi syndrome and Angelman syndrome. Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. Other conditions, such as Beckwith-Wiedemann syndrome, are associated with abnormalities of imprinted genes on the short arm of chromosome 11.

Occasionally, all chromosomes will be inherited from one parent, due to either a sperm fertilizing an empty egg and duplicating itself, or a diploid egg that is not fertilized. The effect is similar to triploidy, with either a molar pregnancy with no embryo if only paternal genes are present, or an embryo with no placenta if only maternal genes are present. Neither condition ever results in a liveborn infant.