[HTML][HTML] Natural human chimeras: A review

K Madan - European Journal of Medical Genetics, 2020 - Elsevier
The term chimera has been borrowed from Greek mythology and has a long history of use in
biology and genetics. A chimera is an organism whose cells are derived from two or more …

Lateralized and segmental overgrowth in children

A Mussa, D Carli, S Cardaropoli, GB Ferrero, N Resta - Cancers, 2021 - mdpi.com
Simple Summary Congenital lateralized or segmental overgrowth (LO) disorders are
conditions characterized by excessive tissue growth of a body region often associated with a …

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

D Mackay, J Bliek, M Kagami, J Tenorio-Castano… - Clinical …, 2022 - Springer
Background Imprinting disorders, which affect growth, development, metabolism and
neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed …

Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …

KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …

Genome‐wide abnormalities in embryos: Origins and clinical consequences

H Masset, O Tšuiko, JR Vermeesch - Prenatal Diagnosis, 2021 - Wiley Online Library
Ploidy or genome‐wide chromosomal anomalies such as triploidy, diploid/triploid
mixoploidy, chimerism, and genome‐wide uniparental disomy are the cause of molar …

Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism

JD West, CA Everett - Reproduction and Fertility, 2022 - raf.bioscientifica.com
Some human preimplantation embryos are chromosomally mosaic. For technical reasons,
estimates of the overall frequency vary widely from< 15 to> 90% and the true frequency …

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome

H Soejima, S Hara, T Ohba, K Higashimoto - Cancers, 2022 - mdpi.com
Simple Summary Placental mesenchymal dysplasia (PMD) is a morphological abnormality
resembling partial hydatidiform moles without abnormal trophoblastic proliferation. In PMD …

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features

S Berland, CF Rustad… - Molecular …, 2021 - molecularcasestudies.cshlp.org
Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in
a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) …

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

G Mastromoro, D Guadagnolo… - American Journal of …, 2023 - Wiley Online Library
Mosaic genome‐wide paternal uniparental disomy (GWpUPD) is a rare condition in which
two euploid cell lines coexist in the same individual, one with biparental content and one …

Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

M Johansen, GT Haskell, A Arreola… - Prenatal …, 2024 - Wiley Online Library
Objectives To investigate the prenatal detection rate of mosaicism by SNP microarray
analysis, in which an individual has not one, but two, complete genomes (sets of DNA) in …