Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

INTRODUCTION: Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child...

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Detalles Bibliográficos
Autores principales: Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D’Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Genome-Wide Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869459/
https://www.ncbi.nlm.nih.gov/pubmed/29378768
http://dx.doi.org/10.1136/jmedgenet-2017-105125

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869459/
https://www.ncbi.nlm.nih.gov/pubmed/29378768
http://dx.doi.org/10.1136/jmedgenet-2017-105125

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