Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism

Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism

Introduction:The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%–60%...

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Main Authors: M. P. Navarrete-Meneses, I. Ochoa-Mellado, R. Gutiérrez-Álvarez, D. Martínez-Anaya, U. Juárez-Figueroa, C. Durán-McKinster, E. Lieberman-Hernández, E. Yokoyama-Rebollar, S. Gómez-Carmona, V. Del Castillo-Ruiz, P. Pérez-Vera, C. Salas-Labadía
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Genetics
Subjects:
pigmentary mosaicism
small supernumerary marker chromosome (sSMC)
cytogenomic analysis
fluorescence in situ cell hybridization (FISH)
microarray
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1356786/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1356786/full

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