SEVERAL THOUSAND KNOWN GENETIC MUTATIONS ARE associated with specific
inherited human diseases, and certain single-gene defects are now amenable to preventive …

Thirty-two cases of uniparental disomy (UPD), ascertained from Prader-Willi syndrome
patients (N= 27) and Angelman syndrome patients (N= 5), are used to investigate the pattern …

Uniparental disomy (UPD) of a number of different chromosomes has been found in
association with abnormal phenotypes. A growing body of evidence for an imprinting effect …

Uniparental disomy has been recently recognized as an important phenomenon in non-
Mendelian inheritance of human genetic disorders. Several mechanisms for uniparental …

Allele-specific replication differences have been observed in imprinted chromosomal
regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 …

Maternal uniparental disomy (UPD) for chromosome 14 (upd (14) mat) has been associated
with a distinct phenotype. We describe the first case of maternal uniparental isodisomy for …

We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD (14)). At 7
years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi …

Uniparental disomy (UPD) is a condition in which diploid individuals possess a chromosome
pair from a single parent. In some instances, UPD causes an abnormal phenotype due to …

Maternal uniparental disomy for the entire chromosome 7 (matUPD7) has been reported
several times in Silver-Russell syndrome (SRS) and growth-restricted patients. Here we …

“To date it has not been possible to explain any aspect of the morphologic phenotype of
Down syndrome as an effect of a single gene on the supernumerary chromosome …