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.