Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype.

The article presents a case study of a 6-year-old girl has visited the hospital for evaluation of short stature. Topics include the turner syndrome (TS) is a chromosomal disorder with characteristic features, such as short stature and ovarian failure, the TS is typically diagnosed based on 20-cell karyotyping of peripheral blood lymphocytes, with 45, X being the most prevalent, and the TS is phenotypically suspected, despite a lack of evidence for mosaicism by 20-cell karyotyping.