Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

BACKGROUND: Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Som...

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Detalles Bibliográficos
Publicado en:Mol Cytogenet
Main Authors: Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6011332/
https://ncbi.nlm.nih.gov/pubmed/29951117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0388-y
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