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Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we re...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Schnabel, Franziska, Smogavec, Mateja, Funke, Rudolf, Pauli, Silke, Burfeind, Peter, Bartels, Iris
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6310980/
https://ncbi.nlm.nih.gov/pubmed/30619508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0410-4
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