Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.23971
Abstract: BACKGROUND Corpus callosum abnormality (CCA) can lead to epilepsy, moderate severe neurologic or mental retardation. The prognosis of CCA is closely related to genetic etiology. However, copy number variations (CNVs) associated with fetal CCA are… read more here.
Keywords: etiology; cnv seq; analysis; cca ... See more keywords
Combined diagnosis of QF‐PCR and CNV‐Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24311
Abstract: This study aimed to evaluate the effect of QF‐PCR and CNV‐seq in diagnosing prenatal fetal chromosomal aberrations, explore the advantages and necessity of multimethod joint diagnosis. read more here.
Keywords: diagnosis; pcr cnv; fetal chromosomal; cnv seq ... See more keywords
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2187
Abstract: BACKGROUND Copy number variation sequencing (CNV-seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF-PCR) is a supplementary method to CNV-seq in triploid detection. This study aimed to evaluate the… read more here.
Keywords: chromosomal abnormalities; cnv seq; seq; analysis ... See more keywords
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-26555-6
Abstract: A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pregnancy studies was… read more here.
Keywords: ultrasound soft; soft markers; copy number; cnv seq ... See more keywords
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0463-z
Abstract: BackgroundChromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified.Case presentationWe performed whole exome… read more here.
Keywords: seq patient; cnv seq; deletion; 14q13 deletion ... See more keywords
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-020-00489-z
Abstract: Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related… read more here.
Keywords: q13; spectrum disorder; autism spectrum; cnv seq ... See more keywords
Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "PeerJ"
DOI: 10.7717/peerj.14400
Abstract: Background Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order… read more here.
Keywords: copy number; prenatal diagnosis; number variation; cnv seq ... See more keywords