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Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
BACKGROUND: The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y chromosome; these events primarily involve the heterochroma...
Autores principales: | Fernández-Hernández, Liliana, Navarro-Cobos, María José, Alcántara-Ortigoza, Miguel Angel, Ramos-Ángeles, Sandra Elena, Molina-Álvarez, Bertha, Díaz-Cuéllar, Sinhué, Asch-Daich, Bárbara, González-del Angel, Ariadna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670163/ https://www.ncbi.nlm.nih.gov/pubmed/31388356 http://dx.doi.org/10.1186/s13039-019-0438-0 |
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