Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. The GeneDx Prenatal Targeted Array is a combined CGH and SNP array for detecting copy number changes and uniparental disomy (UPD), respectively. RESULTADOS: a análise molecular da região 7p11 excluiu a dissomia uniparental para este caso. No exame físico foram constatados os principais sinais.
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Arranjos GeneDx agora detectam variações no número de cópias e Dissomia Uniparental (UPD).
Uniparental disomy UPD occurs when a person receives two copies of a chromosomeor of part of a chromosome, from one parent and no copy from the other parent. For example, either isodisomy or heterodisomy can unipadental parent-specific genomic imprintingresulting in imprinting disorders. Additionally, isodisomy leads to unjparental blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners.
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 happened during meiosis II, the ujiparental may include identical copies of the uniparental chromosome isodisomyleading to the manifestation of rare recessive disorders. UPD should be suspected in an individual manifesting a recessive disorder where only one parent is a carrier.
Uniparental inheritance of imprinted genes can also result in phenotypical anomalies.
Orphanet: Dissomia uniparental de origem paterna cromossoma 14
Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, mental retardation, or other medical problems.
Occasionally, all chromosomes will be inherited ubiparental one parent. As a result, recessive traits can be expressed.
The first clinical case of UPD was reported in and involved unipagental girl with cystic fibrosis and unusually short stature who carried two copies of maternal chromosome 7. This includes chromosomes 2, 5—11, 13—16, 21 and This article incorporates public domain text from The U. National Library of Medicine. From Wikipedia, the free encyclopedia. Retrieved 29 February Low incidence or lack of study”. Indian Journal of Human Genetics.
Archived from the original on Expert Reviews in Molecular Medicine. Retrieved 11 June American Journal of Human Genetics.
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