Cytogenetic findings in Serbian patients with Turner’s syndrome stigmata

Abstract

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 nonmosaic 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.

Analysis of Turner Syndrome Patients within the Jordanian Population, with a Focus on Four Patients with Y Chromosome Abnormalities

“…In our study, 43.6% of the TS cases were caused by 45,X monosomy, this being the most common cause of TS in our sample pool. These results were consistent with the data reported from other studies [Palmer and Reichman, 1976;Hall et al, 1982;Djordjevic et al, 2010]. X mosaicism including X/XX, X/XXX and X/XX/XXX was present in our sample pool at 11.2% whereas structural aberrations of the X chromosome were detected in 49 of 142 patients, corresponding to 34.5% of the population studied.…”

Effect of chromosome constitution variations on the expression of Turner phenotype

“…Our cytogenetic analyses of 65 TS patients corroborated, in general, previously reported data (Held et al, 1992;Schoemaker et al, 2008;Djordjević et al, 2010;Elleuch et al, 2010). However, our patient sample had only one case (1.5%) of mosaicism with a normal cell line (46,XX), which is significantly lower than frequencies described in the literature (8 to 17%).…”

“…Four other studies reported an association of X-monosomy with balanced Robertsonian translocation t(13;14) (Laszlo et al, 1984;Salamanca et al, 1985;Krajinovic et al, 1994;Silva et al, 2006). Recently, Djordjević et al (2010) showed a case of 45,X,t(1;9) (cen;cen) in combination with a r(X) mosaic karyotype.…”

“…Other karyotypes with structural changes in the X chromosome are present in approximately 30% of cases, including isochromosome of the long arm, deletion of the short arm or ring chromosomes, either in homogeneous karyotypes or in mosaics with a 45,X cell line (Oliveira et al, 2009;Djordjević et al, 2010;Elleuch et al, 2010). Patients with TS may also have a second cell line with a normal or abnormal Y chromosome in 5 to 6% of cases (Gravholt, 2005).…”

Craniofacial morphology in Turner syndrome patientstreated with growth hormone

“…On the other hand, mosaic karyotypes were more frequent than isochromosomes, in contrast to what was expected. 29 It may be speculated that distribution of karyotypes did not alter the results in this study, since different karyotypes did not influence craniofacial morphology significantly.…”