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

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.493
Five Year Impact Factor 0.531
SNIP 0.373
JCI 0.17

Advanced search

Top 10 downloaded articles
- June 2023 -
Screening of a novel BRCA2 mut... 15
Gene polymorfism of angiotensi... 2
Serum leptin levels in obese c... 2
Comparison of two analytical m... 2
Renal dysfunction at hospital ... 2
GJB2 and GJB6 genes mutations ... 2
Variability of ex-vivo stimula... 2
Assessment on the influence of... 2
Endothelial progenitor cell (E... 2
Coagulation factor XIII, impai... 1

Log in

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

  PDF Download full text PDF
(92 KB)
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