Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

M Rosenberg, C Killoran, L Dziadzio, S Chang… - Human genetics, 2001 - Springer
We screened 120 children with sporadic multiple congenital anomalies and either growth or
mental retardation for uniparental disomy (UPD) or subtelomeric deletions. The screening …

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 …

Global analysis of uniparental disomy using high density genotyping arrays

S Bruce, R Leinonen, CM Lindgren, K Kivinen… - Journal of medical …, 2005 - jmg.bmj.com
Background: Uniparental disomy (UPD), the inheritance of both copies of a chromosome
from a single parent, has been identified as the cause for congenital disorders such as Silver …

[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 …

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

WP Robinson, SL Christian, BD Kuchinka… - Clinical …, 2000 - Wiley Online Library
Paternal uniparental disomy (UPD) for chromosome 15 (UPD15), which is found in∼ 2% of
Angelman syndrome (AS) patients, is much less frequent than maternal UPD15, which is …

The centralized prenatal genetics screening program of New York City III: The first 7,000 cases

PA Benn, LYF Hsu, A Carlson… - American journal of …, 1985 - Wiley Online Library
Abstract The Prenatal Diagnosis Laboratory of New York City (PDL) is a regional program
for the prevention of genetic diseases. The administrative aspects of the establishment of the …

[HTML][HTML] 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 …

[图书][B] Genomic imprinting and uniparental disomy in medicine: clinical and molecular aspects

E Engel, SE Antonarakis - 2004 - books.google.com
Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference
on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to …

Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical'maternal AFP/hCG levels, with an update on a previous case

J Wolstenholme, I White, S Sturgiss… - … in Affiliation With the …, 2001 - Wiley Online Library
We report a case of maternal uniparental disomy 2, detected through routine screening of
placental karyotypes following the finding of 'atypical'AFP/hCG levels in the second …

[PDF][PDF] Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?

NC Rose, P Benn, A Milunsky - Prenatal Diagnosis, 2016 - academia.edu
INTRODUCTION The observation that maternal blood contains fragments of cell free DNA
(cfDNA) of fetal origin was first described in 19971 and screening for fetal aneuploidy using …