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Title: | Cytogenetic findings in Serbian patients with Turner's syndrome stigmata | Authors: | Djordjević, Vesna Jovanović, Jelica Pavković Lučić, Sofija Drakulić, Danijela Djurović, M. M. Gotić, Mirjana |
Keywords: | Chromosomal abnormalities;Turner’s syndrome | Issue Date: | 1-Jan-2010 | Rank: | M23 | Journal: | Genetics and molecular research : GMR | Volume: | 9 | Issue: | 4 | Start page: | 2213 | End page: | 2221 | Abstract: | Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient. |
URI: | https://biore.bio.bg.ac.rs/handle/123456789/516 | DOI: | 10.4238/vol9-4gmr953 |
Appears in Collections: | Journal Article |
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