What is the role of androgen receptor gene quantitative real-time polymerase chain reaction (AR-qPCR) technique in the workup of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

This is a simple and reliable screening method for the diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X chromosomes. [42]

The screening method determines the copy number assessment of the androgen receptor (AR) gene, located at Xq11.2-Xq12.


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