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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentatio...

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Hoofdauteurs: Paola E. Leone, Verónica Yumiceba, Ariana Jijón-Vergara, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Patricia Guevara-Ramírez, Andrés López-Cortés, Ana K. Zambrano, Jesús M. Hernández-Rivas, Juan Luis García, César Paz-y-Miño
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2020-11-01
Reeks:Molecular Cytogenetics
Onderwerpen:
Turner syndrome
Reciprocal translocation
Cytogenetics
Genetic mapping arrays
FISH
Online toegang:http://link.springer.com/article/10.1186/s13039-020-00515-0
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