A retrospective analysis of 10-year data assessed the diagnostic accuracy and efficacy of cytogenomic abnormalities in current prenatal and pediatric settings
H Chai, A DiAdamo, B Grommisch, F Xu, Q Zhou… - Frontiers in …, 2019 - frontiersin.org
Background: Array comparative genomic hybridization (aCGH), karyotyping and
fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic …
fluorescence in situ hybridization (FISH) analyses have been used in a clinical cytogenetic …
Clinical selection of prenatal diagnostic techniques following positive noninvasive prenatal screening results in Southwest China
X Jing, H Liu, Q Zhu, S Liu, J Liu, T Bai, C Deng… - Frontiers in …, 2022 - frontiersin.org
Background: This study aims to evaluate prenatal diagnosis methods following positive
noninvasive prenatal screening (NIPS) results. Methods: According to the positive …
noninvasive prenatal screening (NIPS) results. Methods: According to the positive …
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic …
M Bouassida, D Molina‐Gomes… - … Genetics & Genomic …, 2024 - Wiley Online Library
Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still
face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant …
face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant …
“RATs”: Rare Autosomal Trisomies and Their Relevance in cfDNA Testing
FR Grati, P Benn - Prenatal Diagnostic Testing for Genetic Disorders: The …, 2023 - Springer
This chapter describes the genetics and the fetoplacental biology of rare autosomal
trisomies (RATs) and their implications in prenatal cell-free DNA-based screening (or …
trisomies (RATs) and their implications in prenatal cell-free DNA-based screening (or …
Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous …
H Chai, B Grommisch, A DiAdamo… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Integrated chromosome, fluorescence in situ hybridization (FISH) and array
comparative genomic hybridization (aCGH) analyses have been effective in defining …
comparative genomic hybridization (aCGH) analyses have been effective in defining …
[HTML][HTML] Цитогенетические методы в практике современных медико-биологических исследований. часть i: история и теоретические основы цитогенетики …
АН Волков, ЛВ Начева - Фундаментальная и клиническая …, 2021 - cyberleninka.ru
В медицине исследование хромосом является незаменимым методом установления
генетических причин ряда заболеваний и функциональных нарушений у человека на …
генетических причин ряда заболеваний и функциональных нарушений у человека на …
Prenatal cytogenetic diagnosis: results obtained in the specialized laboratory of Clínica Universitaria Colombia from 2013 to 2019
JJ Lopez Rivera, M Zapata Arizabaleta… - The Journal of …, 2022 - Taylor & Francis
Objective Prenatal cytogenetic evaluation is a key tool for identifying alterations in pregnant
women with high risk for fetal chromosomal abnormalities (CA). In Colombia, there are not …
women with high risk for fetal chromosomal abnormalities (CA). In Colombia, there are not …
FISH—in Routine Diagnostic Settings
C Cui, P Li - Cytogenetics and Molecular Cytogenetics, 2022 - taylorfrancis.com
Fluorescence in situ hybridization (FISH) is a cell-based macromolecule recognition
technique based on the complementary nature of DNA double strands. Fluorophore-coupled …
technique based on the complementary nature of DNA double strands. Fluorophore-coupled …
[PDF][PDF] La amplificación múltiple de sondas dependiente de ligación para el diagnóstico rápido de aneuploidías. Revisión sistemática
MS Torres, AE Álvarez, AB Martínez… - Salud, Ciencia y …, 2023 - pdfs.semanticscholar.org
Propósito de la revisión: En Cuba se dispone actualmente de una alternativa en aquellos
casos donde la realización del cariotipo no es posible o resulta no concluyente, en tales …
casos donde la realización del cariotipo no es posible o resulta no concluyente, en tales …