A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
Joint Authors
Robertson, Stephen P.
Taylor, Juliet
Mazzaschi, Roberto L. P.
George, Alice M.
Love, Donald R.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-17
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Mazzaschi, Roberto L. P.& Taylor, Juliet& Robertson, Stephen P.& Love, Donald R.& George, Alice M.. 2014. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-483888
Modern Language Association (MLA)
Mazzaschi, Roberto L. P.…[et al.]. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker. Case Reports in Genetics No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-483888
American Medical Association (AMA)
Mazzaschi, Roberto L. P.& Taylor, Juliet& Robertson, Stephen P.& Love, Donald R.& George, Alice M.. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-483888
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-483888