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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

AIMS: There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the genotype and the phenotype. METHODS: Two pedigrees w...

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Detalles Bibliográficos
Autores principales:	Zhuang, Jianlong, Zhang, Na, Fu, Wanyu, Yao, Jianfeng, Li, Yanqing, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Jiang, Yuying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8482616/ https://www.ncbi.nlm.nih.gov/pubmed/34587985 http://dx.doi.org/10.1186/s13039-021-00568-9

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