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A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small m...

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Detalles Bibliográficos
Autores principales:	Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977098/ https://www.ncbi.nlm.nih.gov/pubmed/24778889 http://dx.doi.org/10.1155/2014/597314

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