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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Bibliographic Details
Main Authors: Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2014/597314