Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV),...

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Detalhes bibliográficos
Main Authors: Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Jennifer Boyle, Katherine Amato, Dongmei Wang, Jiadi Wen, Peining Li
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2019-01-01
Colecção:Medical Sciences
Assuntos:
fluorescence in situ hybridization (FISH)
karyotype
array comparative genomic hybridization (aCGH)
amniotic fluid (AF)
chorionic villus sampling (CVS)
aneuploidies
pathogenic copy number variants (pCNV)
confined placental mosaicism (CPM)
true fetal mosaicism (TFM)
pseudo-mosaicism
Acesso em linha:https://www.mdpi.com/2076-3271/7/2/16
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