… Over the past 20 years, UPD has been receiving increasing attention because of its recognized
contribution to the onset of cancer as well as to developmental disease. This has been …

… , Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O’Brien WE, Beaudet AL (1988):
Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226. …

… Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from
the same parent. There can be … The rescue process can result in uniparental disomy (UPD). …

… Uniparental disomy (UPD) is the abnormal presence of either two paternal or two maternal
homologous chromosomes in a disomic cell line. When such an event took place in an …

… for an autosome that clarified the etiology of their developmental problems: a 27-year-old …
that uniparental disomy is a not negligible cause of congenital developmental anomalies in …

… Institute for Child Health and Development, Tokyo, Japan … Uniparental disomy (UPD) refers
to a condition in which two … to various disease phenotypes by causing imprinting disorders or …

… Summary Uniparental disomy (UPD) refers to the situation in … the impact of chromosomal
abnormalities and chromosomal … Uniparental disomy in humans: development of an imprinting …

… Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only …
In this review we discuss briefly the problems associated with UPD and provide a …

… and recessive diseases. We have developed a software tool to detect uniparental disomy …
from the Deciphering Developmental Disorders project, a trio-based rare disease study, and …

… Uniparental disomy (UPD) results when both copies of a chromosome pair originate from one
parent. In humans, this might result in developmental disease … in developmental diseases, …