Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p

Trisomy 17 is a rare chromosomal disorder. Existing literature on the topic is limited and mostly refer to mosaic Trisomy 17 cases. Our report summarizes the 70‐day clinical course of a late preterm neonate with partial Trisomy 17p karyotype 46,XY,der(14)t(14;17)(p11.1;p11.2) dpat. Trisomy 17 due to...

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Detalles Bibliográficos
Autores principales: Musabi, Melab, Saker, Ayman, Baer, Jessi, Wang, Peter, Mohseni Meybodi, Anahita, Prasad, Chitra, Bhattacharya, Soume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536500/
https://www.ncbi.nlm.nih.gov/pubmed/36237944
http://dx.doi.org/10.1002/ccr3.6343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536500/
https://www.ncbi.nlm.nih.gov/pubmed/36237944
http://dx.doi.org/10.1002/ccr3.6343

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