What causes Turner syndrome?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

The diagnosis of Turner syndrome requires the presence of typical phenotypic features and the complete or partial absence of a second sex chromosome.

Advanced maternal age is not associated with an increased incidence.

In patients with a single X chromosome, the chromosome is of maternal origin in two thirds of cases.

Many of the features of Turner syndrome, including the short stature, are due to the lack of a second SHOX gene, which is on the X chromosome. [34]


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