RRML - Y chromosome in Turner syndrome and FISH technique usefulness in cytogenetic diagnosis

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Concept, Design & Programming
Dr. Adrian Man

Nr. 20(4)/2012

Y chromosome in Turner syndrome and FISH technique usefulness in cytogenetic diagnosis

Diana-Laura Miclea, Paula Grigorescu-Sido, Simona Bucerzan, Ioan Victor Pop


Context. Y chromosome detection in Turner syndrome (TS) has a particular clinical significance because it involves up to 30% risk for gonadoblastoma development. Using standard cytogenetics techniques, Y chromosome is observed in approximately 6% of studied cases. Using FISH techniques (Fluorescent in Situ Hybridization) an additional number of cases initially undetected by conventional cytogenetics with chromosome Y has been diagnosed. The management of these situations is prophylactic gonadectomy. Aims. The principal aim of the study was Y chromosome detection using FISH technique in patients with TS. Other sex chromosome abnormalities were assessed within the same analysis. Material and method. 21 patients with TS were included in the study. The patients standard karyotypes were homogeneous monosomy 45,X in 13 cases and mosaicism in 8 cases, with a second cell line, of which: 2 patients - 46,XX, 2 patients- 46,Xi(Xq), one patient – 46,X,r(X), one patient – 46,X,del(Xp) and 2 patients – 46,X,+mar. FISH technique was used to analyze sex chromosomes abnormalities. Results. FISH technique failed to reveal the Y chromosome in these patients. FISH technique allowed the marker chromosomes identification as originating from the X chromosome. Also, in two patients diagnosed with homogeneous monosomy 45,X by conventional cytogenetics, the FISH technique pointed out a low-level mosaicism. Conclusion. By comparing with literature data, we have highlighted the utility of FISH technique, as a sensitive, specific and fast quantitative technique for the detection of Y chromosome, also for chromosome marker identification and low level mosaicism detection involving X chromosome in TS patients.

Keywords: Turner syndrome,Y chromosome,mosaicism,FISH

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How to cite
Miclea DL, Grigorescu-Sido P, Bucerzan S, Pop IV. Y chromosome in Turner syndrome and FISH technique usefulness in cytogenetic diagnosis. Rev Romana Med Lab. 2012;20(4):327-33