Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/516
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
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