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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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/597314 |
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| author | Roberto L. P. Mazzaschi Juliet Taylor Stephen P. Robertson Donald R. Love Alice M. George |
| author_facet | Roberto L. P. Mazzaschi Juliet Taylor Stephen P. Robertson Donald R. Love Alice M. George |
| author_sort | Roberto L. P. Mazzaschi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-336f60b46f7e4127b86dd38ad698fc19 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-336f60b46f7e4127b86dd38ad698fc192025-02-03T06:04:59ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/597314597314A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome MarkerRoberto L. P. Mazzaschi0Juliet Taylor1Stephen P. Robertson2Donald R. Love3Alice M. George4Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandDepartment of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin 9054, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandA 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.http://dx.doi.org/10.1155/2014/597314 |
| spellingShingle | Roberto L. P. Mazzaschi Juliet Taylor Stephen P. Robertson Donald R. Love Alice M. George A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker Case Reports in Genetics |
| title | A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker |
| title_full | A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker |
| title_fullStr | A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker |
| title_full_unstemmed | A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker |
| title_short | A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker |
| title_sort | turner syndrome patient carrying a mosaic distal x chromosome marker |
| url | http://dx.doi.org/10.1155/2014/597314 |
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