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Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

BACKGROUND: Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese families aiming to emphasize the genotype–phenotype correl...

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Detalles Bibliográficos
Autores principales:	Zhuang, Jianlong, Chen, Chunnuan, Zhang, Hegan, Fu, Wanyu, Li, Yanqing, Jiang, Yuying, Zeng, Shuhong, Wu, Xiaoxia, Xie, Yingjun, Wang, Gaoxiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336048/ https://www.ncbi.nlm.nih.gov/pubmed/35902965 http://dx.doi.org/10.1186/s13039-022-00608-y

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