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A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

BACKGROUND: Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it h...

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Detalles Bibliográficos
Autores principales:	Jin, Chunyan, Gu, Zhiping, Jiang, Xiaohan, Yu, Pei, Xu, Tianhui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214785/ https://www.ncbi.nlm.nih.gov/pubmed/34147104 http://dx.doi.org/10.1186/s12920-021-01013-x

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