A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome

BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats. Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring sma...

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Detalles Bibliográficos
Autores principales: Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067088/
https://www.ncbi.nlm.nih.gov/pubmed/24959203
http://dx.doi.org/10.1186/1755-8166-7-37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067088/
https://www.ncbi.nlm.nih.gov/pubmed/24959203
http://dx.doi.org/10.1186/1755-8166-7-37

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