Cytogenetic findings in Serbian patients with Turner's syndrome stigmata.
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.
Clinic of Hematology, Clinical Center of Serbia, Belgrade, Serbia. djvesna.kcs@gmail.com
V A
VA
Djordjević
J V
JV
Jovanović
S B
SB
Pavković-Lučić
D D
DD
Drakulić
M M
MM
Djurović
M D
MD
Gotić
D002869:Chromosome Aberrations; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D055771:Serbia; D014424:Turner Syndrome / Q000235:genetics*