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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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Detalhes bibliográficos
Main Authors: Rachel O'Connor, Amel Al-Murrani, Salim Aftimos, Philip Asquith, Roberto Mazzaschi, Dominique Eyrolle-Guignot, Alice M. George, Donald R. Love
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Limited 2011-01-01
Colecção:Case Reports in Genetics
Acesso em linha:http://dx.doi.org/10.1155/2011/898706
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