Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

BACKGROUND: Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chromosome 13...

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Detalles Bibliográficos
Autores principales: Morán‐Barroso, Verónica Fabiola, Cervantes, Alicia, Rivera‐Vega, María del Refugio, del Castillo‐Moreno, Adriana, Moreno‐Chacón, Alejandra, Mejía‐Cauich, Estefanía, Contreras‐Ortiz, Laura Eréndira, Fernández‐Ramírez, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457692/
https://www.ncbi.nlm.nih.gov/pubmed/34288579
http://dx.doi.org/10.1002/mgg3.1762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457692/
https://www.ncbi.nlm.nih.gov/pubmed/34288579
http://dx.doi.org/10.1002/mgg3.1762

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