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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

BACKGROUND: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluor...

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Detalles Bibliográficos
Autores principales: Slimani, Wafa, Ben Khelifa, Hela, Dimassi, Sarra, Chioukh, Fatma-Zohra, Jelloul, Afef, Kammoun, Molka, Hannachi, Hanene, Bouslah, Sarra, Jammali, Nesrine, Sanlaville, Damien, Saad, Ali, Mougou-Zerelli, Soumaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368812/
https://www.ncbi.nlm.nih.gov/pubmed/30774715
http://dx.doi.org/10.1186/s13039-019-0414-8