Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication

Abstract

Turner syndrome (TS) is a relatively common chromosomal disorder characterized by short stature, ovarian failure, and multiple congenital anomalies. Xp deletion is rarely reported as an etiology of TS, and in most cases, the characteristic features are lacking. Therefore, we present a case of a 33-monthold girl who was admitted due to a developmental delay: she had short stature and Müllerian agenesis.We used a chromosomal microarray and confirmed Xp22.33-p11.3 deletion and 7p22.3-q11.21 duplication. Other TS complications included Hashimoto's thyroiditis. Currently, the patient is undergoing recombinant human growth hormone treatment for short stature. To the best of our knowledge, this is the first report of TS due to an Xp22.33 deletion combined with a 7p22.3 duplication.We believe that these data will serve as a good reference for analyzing atypical TS or Xp deletion phenotypes.