Cargando…

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...

Descripción completa

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:
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