What is the role of karyotyping in the diagnosis of 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

A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism. [10]

Diagnosis is confirmed by the presence of a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion).

The buccal smear for Barr bodies is obsolete.

A male phenotype excludes the diagnosis, regardless of karyotype. [11]

Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe.


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