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STUDY QUESTION Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient’s phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A, N/A.

Le syndrome de Turner (ST) est caracterise par une perte complete ou partielle du chromosome X, diagnostique sur le caryotype lymphocytaire. Dans 50 % des cas, il existe une mosaique 45,X/46,XX. Le but de notre etude est de comparer les resultats du frottis buccal associe a une technique d’hybridation in situ par fluorescence (FISH) avec le caryotype lymphocytaire. Une etude prospective, de juillet 2017 a aout 2019, a recrute au sein d’un centre de maladies rares, 142 patientes adultes avec un ST. Un frottis buccal a ete realise, apres un consentement eclaire. Les donnees cliniques ont ete extraites de la base CEMARA. Le pourcentage de cellules 45,X etait identique entre les deux techniques chez seulement 32,4 % des patientes. La difference etait superieure a 41 % pour 12 % de la cohorte. Le pourcentage de cellules 45,X etait plus eleve dans le frottis jugal chez 53 (30,3 %) des patientes. Chez 17 (12 %) patientes, le frottis a modifie le type de l’anomalie genetique du ST, obtenu par le caryotype sanguin. Il a permis d’identifier la presence d’un chromosome Y non detecte sur les lymphocytes (n = 1) et des mosaiques chez des patientes avec une formule 45,X homogene sur les lymphocytes (n = 16). L’amenorrhee secondaire etait plus precoce lorsque le pourcentage de 45,X etait eleve sur le frottis. Le caryotype sanguin reste l’examen de reference pour le diagnostic de ST. Cependant, la FISH sur frottis buccal, technique non invasive, permet d’evaluer plus precisement la constitution chromosomique des patientes avec un ST et ainsi d’optimiser leur prise en charge.