Placental mosaicism in the era of chromosomal microarrays.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103778
Abstract: OBJECTIVE Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. Here, we present clinical and laboratory data on five cases… read more here.
Keywords: era; mosaicism; chromosomal aberrations; structural chromosomal ... See more keywords
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-021-00549-y
Abstract: Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells.… read more here.
Keywords: chorionic villi; chromosomal aberrations; structural chromosomal; case ... See more keywords
Highly performing automatic detection of structural chromosomal abnormalities using Siamese architecture.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of molecular biology"
DOI: 10.2139/ssrn.4246604
Abstract: The detection of structural chromosomal abnormalities (SCA) is crucial for diagnosis, prognosis and management of many genetic diseases and cancers. This detection, done by highly qualified medical experts, is tedious and time-consuming. We propose a… read more here.
Keywords: highly performing; siamese architecture; structural chromosomal; detection structural ... See more keywords