Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy
(GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and …

Mosaicism for genome‐wide paternal uniparental disomy (UPD) has been reported in only
seven live born individuals to date. Clinical presentation includes manifestations of multiple …

We report on a 6‐month‐old girl with two apparent cell lines; one with trisomy 21, and the
other with paternal genome‐wide uniparental isodisomy (GWUPiD), identified using single …

Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a
group of congenital diseases commonly known as imprinting disorders (IDs). Whereas …

Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes
originating from the same parent and is typically identified by marker analysis or single …

To date, uniparental disomy (UPD) with phenotypic relevance is described for different
chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due …

Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as
mosaicism have previously been reported. We present the case of an 11-year-old deaf girl …

Growth is a complex process which is in part genetically determined. Among other genetic
causes, uniparental disomy (UPD), the exceptional inheritance of two homologous …

Recently, mosaicism for genome‐wide paternal uniparental disomy (patUPD), attributed to
androgenetic/biparental mosaicism, has been shown to underlie placental mesenchymal …

Objective: To review all cases with segmental and/or complex uniparental disomy (UPD)
and to discuss the impact of these cases on medical genetics. Design: Searching for …