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Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which...

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Detalles Bibliográficos
Autores principales:	Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9343796/ https://www.ncbi.nlm.nih.gov/pubmed/35928455 http://dx.doi.org/10.3389/fgene.2022.906077

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