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Case Reports in Genetics
Volume 2014, Article ID 597314, 5 pages
http://dx.doi.org/10.1155/2014/597314
Case Report

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

1Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
3Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin 9054, New Zealand
4School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand

Received 31 December 2013; Accepted 5 February 2014; Published 17 March 2014

Academic Editors: M. Fenger, G. Vogt, and X. Wang

Copyright © 2014 Roberto L. P. Mazzaschi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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 marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.