Different Chromosome Y Abnormalities in Turner Syndrome
| dc.contributor.author | Bağcı, G. | |
| dc.contributor.author | Acar, H. | |
| dc.contributor.author | Tomruk, H. | |
| dc.date.accessioned | 2020-03-26T16:37:02Z | |
| dc.date.available | 2020-03-26T16:37:02Z | |
| dc.date.issued | 2001 | |
| dc.department | Selçuk Üniversitesi | en_US |
| dc.description.abstract | Different Chromosome Y Abnormalities in Turner Syndrome: A 17-year-old phenotypically female girl was referred for evaluation because of short stature and primary amenorrhea. Cytogenetic analysis showed a mosaic 46,XY/45,X/47,XYY/46,X,idic(Yq)/47,XY,idic(Yq)/48,XXY,idic(Yq)/46,X,t(C:Y) karyotype. Conventional cytogenetic results were supplemented with fluorescence in situ hybridization (FISH) techniques to ensure a better characterization of abnormalities. By using FISH, a supernumerary marker chromosome derived from chromosome Y which could not be detected by conventional cytogenetics was revealed. Furthermore, additional abnormalities and their frequencies were highlighted by the application of DNA probes specific for X and Y chromosomes. Thus, FISH proved useful in determining low frequency cell lines which would need analysis of a large number of good quality metaphase spreads by conventional cytogenetic techniques; it helped in Identifying the nature and the origin of unknown markers and rearrangements which have important implication in sexual differentiation and development of gonadal tumours. | en_US |
| dc.identifier.citation | Bağcı, G., Acar, H., Tomruk, H., (2001). Different Chromosome Y Abnormalities in Turner Syndrome. Genetic Counseling, 12(3), 255-261. | |
| dc.identifier.endpage | 261 | en_US |
| dc.identifier.issn | 1015-8146 | en_US |
| dc.identifier.issue | 3 | en_US |
| dc.identifier.pmid | 11693789 | en_US |
| dc.identifier.startpage | 255 | en_US |
| dc.identifier.uri | https://hdl.handle.net/20.500.12395/17517 | |
| dc.identifier.volume | 12 | en_US |
| dc.identifier.wos | WOS:000171591200007 | en_US |
| dc.identifier.wosquality | N/A | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | MEDECINE ET HYGIENE | en_US |
| dc.relation.ispartof | Genetic Counseling | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.selcuk | 20240510_oaig | en_US |
| dc.subject | Turner Syndrome | en_US |
| dc.subject | Idic(Y) | en_US |
| dc.subject | Mosaic 45,X | en_US |
| dc.subject | FISH | en_US |
| dc.title | Different Chromosome Y Abnormalities in Turner Syndrome | en_US |
| dc.type | Article | en_US |
