Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. C...

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Detalles Bibliográficos
Autores principales: Stavber, Lana, Bertok, Sara, Kovač, Jernej, Volk, Marija, Lovrečić, Luca, Battelino, Tadej, Hovnik, Tinka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364691/
https://www.ncbi.nlm.nih.gov/pubmed/28344653
http://dx.doi.org/10.1186/s13039-017-0312-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364691/
https://www.ncbi.nlm.nih.gov/pubmed/28344653
http://dx.doi.org/10.1186/s13039-017-0312-x

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