UNIPARENTAL DISOMY (UPD): A CONSEQUENCE
OF NON-DISJUNCTION AND THE IMPLICATIONS
IN PRENATAL DIAGNOSIS
Velissariou V* *Corresponding Author: Dr. Voula Velissariou, Cytogenetics Laboratory, Department of Genetics and Molecular Biology, Mitera Hospital, Erythrou Stavrou 7, Maroussi, Athens 11523, Greece; Tel.: +30-210-686-9869; Fax: +30-210-689-9476; E-mail: voulavel@ hol.gr page: 55
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Abstract
Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only one parent. It is the result of two events, either two meiotic, or one meiotic and one mitotic, or two mitotic. The phenotypic effect of UPD depends on the chromosome, whether it contains imprinted genes or not, and on its parent of origin. Adverse phenotypic effects have been documented for chromosomes 6, 7, 11, 12, 14, 15, 16 and 20. Phenotypic effects of UPD can also be due to homozygosity of a recessive gene. Fertilization of a disomic gamete, which is a product of non-disjunction, by a gamete monosomic for the same chromosome, and subsequent loss of the normally inherited chromosome (trisomy rescue) is the most frequently supposed mechanism of formation, and might result in mosaicism in the placenta, or even in certain tissues of the fetus. This low-level mosaicism can remain undetected and renders the delineation of the phenotype more difficult. Another mechanism that may result in UPD is aberrant chromosome segregation in a cell with a Robertsonian translocation involving chromosomes 14 and 15, which are known to contain imprinted genes. Therefore, when placental mosaicism, or a Robertsonian translocation are diagnosed prenatally, it raises the question whether the risk of UPD should be considered and tested for in the fetus.
Key words: Genomic imprinting; Prenatal diagnosis; Uniparental disomy (UPD); Mosaicism.
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