15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation
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Resumen
This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene <i>SNHG14</i> which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.
Cómo citar
Esteban Ortiz‐Prado, & Ana Lucía Iturralde, & Katherine Simbaña‐Rivera, & Lenin Gómez‐Barreno, & Iván Hidalgo, & Mario Rubio-Neira, & Nicolás Espinosa, & Juan S. Izquierdo‐Condoy, & María Emilia Arteaga-Espinosa, & Alex Lister, & Andrés López‐Cortés, & Alejandro Cabrera‐Andrade (2021). 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation. https://doi.org/10.1155/2021/6662054