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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| 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 |