American college of medical genetics statement on diagnostic testing for uniparental disomy

LG Shaffer, N Agan, JD Goldberg, DH Ledbetter… - Genetics in …, 2001 - nature.com
Uniparental disomy represents a departure from the usual situation in which one member of
each pair of chromosomes (called homologous chromosomes) is normally inherited from …

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

D Del Gaudio, M Shinawi, C Astbury, MK Tayeh… - Genetics in …, 2020 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15

D Kotzot - American journal of medical genetics, 1999 - Wiley Online Library
Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only
one parent. The bases are always two events, either two meiotic, or one meiotic and one …

[PDF][PDF] Uniparental disomies in unselected populations

E Engel - The American Journal of Human Genetics, 1998 - cell.com
Uniparental disomy (UPD) is the presence, in a diploid individual, of a chromosome pair that
derives from only one parent (Engel 1980). The first clinical case of UPD was reported by …

[PDF][PDF] Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

LL Field, R Tobias, WP Robinson, R Paisey… - The American Journal of …, 1998 - cell.com
Uniparental disomy (UPD) arises when an individual inherits two copies of a specific
chromosome from one parent and no copy from the other parent. This unusual non …

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

AJ Dawson, J Chernos, J McGowan‐Jordan… - Clinical …, 2011 - Wiley Online Library
Dawson AJ, Chernos J, McGowan‐Jordan J, Lavoie J, Shetty S, Steinraths M, Wang J‐C, Xu
J. CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy. The …

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: 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 …

Uniparental disomy is a chromosomic disorder in the first place

T Liehr - Molecular Cytogenetics, 2022 - Springer
Background Uniparental disomy (UPD) is well-known to be closely intermingled with
imprinting disorders. Besides, UPD can lead to a disease by 'activation'of a recessive gene …

Prenatal testing for uniparental disomy: indications and clinical relevance

D Kotzot - Ultrasound in Obstetrics and Gynecology: The Official …, 2008 - Wiley Online Library
This review aims to provide a rational and ethical basis for prenatal testing for uniparental
disomy (UPD) in cases with abnormal ultrasound findings or numeric and/or structural …