Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution...

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Detalles Bibliográficos
Autores principales: O'Connor, Rachel, Al-Murrani, Amel, Aftimos, Salim, Asquith, Philip, Mazzaschi, Roberto, Eyrolle-Guignot, Dominique, George, Alice M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447219/
https://www.ncbi.nlm.nih.gov/pubmed/23074681
http://dx.doi.org/10.1155/2011/898706

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