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A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome

We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76 Mb tet...

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Detalles Bibliográficos
Autores principales: Li, Jinjie, Zhang, Yue, Diao, Yanjun, Li, Rui, Jiang, Liqing, Zhou, Lei, Liu, Jiayun, Duan, Weixun, Yang, Liu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937470/
https://www.ncbi.nlm.nih.gov/pubmed/33728075
http://dx.doi.org/10.1155/2021/8824184