Article

Medical and ethical challenges in low penetrance copy number variants management: state-of-the-art in the Portuguese Clinical Genetics community

2025-06-23

Abstract excerpt

<title>Abstract</title> <p>Low-Penetrance Copy Number Variants (LP-CNVs) are well-known to contribute to neurodevelopmental disorders and are also found in healthy individuals, presenting significant challenges to genetic counselling. However, data on the clinical management of LP-CNVs in Portugal is lacking. To address this gap, an online questionnaire was administered to Clinical Geneticists in Portugal regardi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2f5507c4-1d61-5e61-9ad4-d8d762743786
DOI: 10.21203/rs.3.rs-6857492/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Medical and ethical challenges in low penetrance copy number variants management: state-of-the-art in the Portuguese Clinical Genetics communityDOI 10.21203/rs.3.rs-6857492/v1Read

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.Semantic proximity Read

Clinical interpretation of copy number variants in the human genome.Semantic proximity Read

Understanding Genetic Variability: Exploring Copy Number Variants through Non-Invasive Prenatal Testing in European PopulationsSemantic proximity Read

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populationsSemantic proximity Read

Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.Semantic proximity Read

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in BrazilSemantic proximity Read

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.Semantic proximity Read

The uncertainty of copy number variants: pregnancy decisions and clinical follow-upSemantic proximity Read

Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practiceSemantic proximity Read

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism using nanopore sequencing and digital PCRSemantic proximity Read

Lost in .*Vcf Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical and Interpretive Challenges in the Post-Sequencing EraSemantic proximity Read

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionalsSemantic proximity Read