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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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| Publicado no: | Mol Cytogenet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5364691/ https://ncbi.nlm.nih.gov/pubmed/28344653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0312-x |
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