Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, an...

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Detalles Bibliográficos
Autores principales: Hemmat, Morteza, Yang, Xiaojing, Chan, Patricia, McGough, Robert A, Ross, Leslie, Mahon, Loretta W, Anguiano, Arturo L, Boris, Wang T, Elnaggar, Mohamed M, Wang, Jia-Chi J, Strom, Charles M, Boyar, Fatih Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255717/
https://www.ncbi.nlm.nih.gov/pubmed/25478007
http://dx.doi.org/10.1186/1755-8166-7-50

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255717/
https://www.ncbi.nlm.nih.gov/pubmed/25478007
http://dx.doi.org/10.1186/1755-8166-7-50

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