Podcast
Questions and Answers
What is the underlying chromosomal abnormality in Klinefelter Syndrome?
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?
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?
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?
What is a common finding in the seminiferous tubules of males with Klinefelter syndrome?
How is Klinefelter syndrome most often detected prenatally?
How is Klinefelter syndrome most often detected prenatally?
Flashcards
Klinefelter Syndrome
Klinefelter Syndrome
A genetic condition in males with an extra X chromosome, resulting in 47 chromosomes with an XXY pattern.
Klinefelter Syndrome Diagnosis
Klinefelter Syndrome Diagnosis
A condition that typically goes undetected until adulthood.
Sterility
Sterility
A key feature of Klinefelter Syndrome involving the inability to produce sperm.
Testicular Atrophy
Testicular Atrophy
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Gynecomastia
Gynecomastia
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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.
