Precise breakpoint detection in a patient with 9p– syndrome

We present a case of 9p– syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocati...

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Detalles Bibliográficos
Autores principales: Ng, Jeffrey, Sams, Eleanor, Baldridge, Dustin, Kremitzki, Milinn, Wegner, Daniel J., Lindsay, Tina, Fulton, Robert, Cole, F. Sessions, Turner, Tychele N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304358/
https://www.ncbi.nlm.nih.gov/pubmed/32532883
http://dx.doi.org/10.1101/mcs.a005348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304358/
https://www.ncbi.nlm.nih.gov/pubmed/32532883
http://dx.doi.org/10.1101/mcs.a005348

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