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Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report

Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence of 1.23 in 1000 live birth and translocation 13...

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Detalles Bibliográficos
Autores principales: SHA, Jing, LIU, Fumin, ZHANG, Bei, HUANG, Yang, ZHANG, Qinglin, JUAN, Gao, ZHAI, Jingfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558080/
https://www.ncbi.nlm.nih.gov/pubmed/28828329