Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

BACKGROUND: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this s...

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Detalles Bibliográficos
Autores principales: Armstrong, Margaret E., Weaver, David D., Lah, Melissa D., Vance, Gail H., Landis, Benjamin J., Ware, Stephanie M., Helm, Benjamin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870180/
https://www.ncbi.nlm.nih.gov/pubmed/29599822
http://dx.doi.org/10.1186/s13039-018-0372-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870180/
https://www.ncbi.nlm.nih.gov/pubmed/29599822
http://dx.doi.org/10.1186/s13039-018-0372-6

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