Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

BACKGROUND: It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis-regulatory elements at one or both breakpoints. CASE PRES...

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Bibliographic Details
Published in:Mol Cytogenet
Main Authors: Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7291734/
https://ncbi.nlm.nih.gov/pubmed/32536973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00490-6
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