Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

BACKGROUND: The phenotype in patients with a 22q11.2 deletion or duplication can be extremely variable, and the causes of such as variations are not well known. RESULTS: We observed additional copy number variations (CNVs) in 2 of 15 cases with a 22q11.2 deletion or duplication. Both cases were newb...

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Detalles Bibliográficos
Autores principales: Li, Deling, Tekin, Mustafa, Buch, Maria, Fan, Yao-Shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349586/
https://www.ncbi.nlm.nih.gov/pubmed/22487416
http://dx.doi.org/10.1186/1755-8166-5-18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349586/
https://www.ncbi.nlm.nih.gov/pubmed/22487416
http://dx.doi.org/10.1186/1755-8166-5-18

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