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Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies

BACKGROUND: Male sex chromosome aneuploidies are underdiagnosed despite concomitant physical and behavioral manifestations. OBJECTIVE: To develop a non-invasive, rapid and high-throughput molecular diagnostic assay for detection of male sex chromosome aneuploidies, including 47,XXY (Klinefelter), 47...

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Detalles Bibliográficos
Autores principales: Hager, Karl, Jennings, Kori, Hosono, Seiyu, Howell, Susan, Gruen, Jeffrey R, Tartaglia, Nicole R, Rinder, Henry M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411476/
https://www.ncbi.nlm.nih.gov/pubmed/22524164
http://dx.doi.org/10.1186/1687-9856-2012-8