Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal de...

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Detalles Bibliográficos
Autores principales: Pace, Nikolai Paul, Maggouta, Frideriki, Twigden, Melissa, Borg, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364590/
https://www.ncbi.nlm.nih.gov/pubmed/28344652
http://dx.doi.org/10.1186/s13039-017-0311-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364590/
https://www.ncbi.nlm.nih.gov/pubmed/28344652
http://dx.doi.org/10.1186/s13039-017-0311-y

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