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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Molecular Cytogenetics
Subjects:
Supernumerary marker chromosome
Chromosome 5
Genotype-phenotype correlation
Aortic aneurysm
5p13 duplication
Online Access:http://link.springer.com/article/10.1186/s13039-018-0372-6

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http://link.springer.com/article/10.1186/s13039-018-0372-6

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