What is the role of a Y-centromeric probe 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

Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. These patients may have malignant gonadoblastomas or testicular tissue. [35] The presence of virilization requires a thorough search for gonadal, adrenal, or midline tumors.

Patients with 45,X/46,XY mosaicism may have mixed gonadal dysgenesis and are at a high risk for gonadoblastoma. These patients may require a prophylactic gonadectomy to prevent death from malignancy.

Patients with ring chromosomes or fragments of chromosomes should be examined for Y chromosomal material for the same reason.


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