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
Publicado en:Mol Cytogenet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255717/
https://ncbi.nlm.nih.gov/pubmed/25478007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-50
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