Klinefelter Syndrome Overview
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Questions and Answers

What is the underlying chromosomal abnormality in Klinefelter Syndrome?

  • An extra Y chromosome (47, XYY)
  • A missing X chromosome (45, X0)
  • A translocation of genetic material between chromosomes
  • An extra X chromosome (47, XXY) (correct)
  • Which of these clinical features are typically associated with Klinefelter Syndrome?

  • Sterility and gynecomastia (correct)
  • Absent secondary sex characteristics
  • Testicular hypertrophy
  • Short stature
  • Which of the following best describes the typical timing of diagnosis for Klinefelter syndrome?

  • Often diagnosed at the time of birth
  • Usually diagnosed post-puberty
  • Most often diagnosed during adulthood (correct)
  • Typically diagnosed during early childhood
  • What is a common finding in the seminiferous tubules of males with Klinefelter syndrome?

    <p>Hyalinization</p> Signup and view all the answers

    How is Klinefelter syndrome most often detected prenatally?

    <p>Through amniocentesis</p> Signup and view all the answers

    Study Notes

    Klinefelter Syndrome Overview

    • Klinefelter syndrome is a genetic condition.
    • It's caused by an extra X chromosome (47, XXY).
    • Often undiagnosed until adulthood.

    Chromosomal Characteristics

    • Affected individuals have 47 chromosomes.
    • Their sex chromosome pattern is XXY.

    Clinical Features

    • Klinefelter syndrome affects only males.
    • Key characteristics include:
      • Sterility
      • Testicular atrophy
      • Hyalinization of seminiferous tubules
      • Longer limbs
      • Gynecomastia

    Diagnosis

    • Diagnosis is commonly made through amniocentesis.

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    Description

    This quiz provides a comprehensive overview of Klinefelter syndrome, a genetic condition caused by an extra X chromosome. Explore its chromosomal characteristics, clinical features, and common methods of diagnosis. Perfect for those studying genetics or medicine.

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