V.A. Djordjevic, J.V. Jovanovic, S.B. Pavkovic-Lucic, D.D. Drakulic, M.M. Djurovic and M.D. Gotic
Published November 9, 2010
Genet. Mol. Res. 9 (4): 2213-2221 (2010)
DOI 10.4238/vol9-4gmr953

About the Authors
V.A. Djordjevic, J.V. Jovanovic, S.B. Pavkovic-Lucic, D.D. Drakulic, M.M. Djurovic and M.D. Gotic

Corresponding author: 
V.A. Djordjević
E-mail: djvesna.kcs@gmail.com

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.

Key words: Chromosomal abnormalities; Turner’s syndrome.