Klinefelter Syndrome Overview
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Questions and Answers

What is the typical sex chromosome configuration in individuals with Klinefelter syndrome?

  • XYY
  • XY
  • XXY (correct)
  • XX

Which of the following is a common clinical feature in males with Klinefelter syndrome?

  • Gynecomastia (correct)
  • Increased fertility
  • Short stature
  • Testicular hypertrophy

Which of these physical characteristics is NOT typically associated with Klinefelter syndrome?

  • Poor beard growth
  • Narrow shoulders
  • Frontal baldness (correct)
  • Longer limbs

What is the primary cause of the sterility observed in individuals with Klinefelter syndrome?

<p>Hyalinization of the seminiferous tubules (A)</p> Signup and view all the answers

Which procedure is often utilized to detect Klinefelter syndrome during prenatal testing?

<p>Amniocentesis (C)</p> Signup and view all the answers

Flashcards

Klinefelter Syndrome

A genetic condition in males caused by an extra X chromosome (XXY).

Sterility

The absence of the ability to reproduce.

Testicular Atrophy

The shrinking and degeneration of the testicles.

Gynecomastia

A condition where the breast tissue in males develops.

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Amniocentesis

A prenatal test that involves extracting amniotic fluid from the womb to examine chromosomes.

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Study Notes

Klinefelter Syndrome

  • A genetic condition resulting from a boy being born with an extra copy of the X chromosome
  • Often undiagnosed until adulthood
  • Characterised by 47 chromosomes, with a sex chromosomal complement of XXY
  • Clinical features include:
    • Sterility
    • Testicular atrophy
    • Hyalinization of seminiferous tubules
    • Longer limbs
    • Gynecomastia (breast development)
    • Reduced chest hair
    • Narrow shoulders
    • Wide hips
    • Poor beard growth
    • Frontal baldness (often absent)
  • Usually detected by amniocentesis

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Description

Explore Klinefelter Syndrome, a genetic condition where a boy is born with an extra X chromosome, resulting in various physical and clinical features. This quiz covers the characteristics, diagnosis, and implications of the syndrome, as well as typical symptoms experienced by affected individuals.

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