Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

P Nakka, SP Smith, AH O'Donnell-Luria… - The American Journal of …, 2019 - cell.com
Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …

[HTML][HTML] Accurate detection of clinically relevant uniparental disomy from exome sequencing data

K Yauy, N de Leeuw, HG Yntema, R Pfundt… - Genetics in Medicine, 2020 - Elsevier
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 …

Uniparental disomy: origin, frequency, and clinical significance

P Benn - Prenatal diagnosis, 2021 - Wiley Online Library
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the
same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the …

[PDF][PDF] Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

MC Keller, AF McRae, JM McGaughran… - American Journal of …, 2009 - Citeseer
Uniparental disomy (UPD) occurs when both homologs of a chromosomal pair come from
the father (paternal UPD) or the mother (maternal UPD). Depending on the mechanism by …

Uniparental disomy in a population of 32,067 clinical exome trios

J Scuffins, J Keller-Ramey, L Dyer, G Douglas… - Genetics in …, 2021 - nature.com
Purpose Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …

Uniparental disomy revisited: the first twelve years

E Engel - American journal of medical genetics, 1993 - Wiley Online Library
Uniparental disomy (UPD), the exceptional derivation of a pair of the offspring chromosomes
from one parent only, may be compatible with normal or abnormal development and can …

Uniparental disomy and human disease: an overview

K Yamazawa, T Ogata… - American Journal of …, 2010 - Wiley Online Library
Uniparental disomy (UPD) refers to the situation in which both homologues of a
chromosomal region/segment have originated from only one parent. This can involve the …

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

D Kotzot - Journal of medical genetics, 2001 - jmg.bmj.com
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD),
to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN …

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

LK Conlin, BD Thiel, CG Bonnemann… - Human molecular …, 2010 - academic.oup.com
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There
are differences between these mechanisms in terms of (i) impact on embryonic …

Mechanisms leading to uniparental disomy and their clinical consequences

WP Robinson - Bioessays, 2000 - Wiley Online Library
Uniparental disomy (UPD) refers to the situation in which both copies of a chromosome pair
have originated from one parent. In humans, it can result in clinical conditions by producing …