Which chromosome abnormality is associated with Klinefelter Syndrome?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Klinefelter Syndrome is specifically associated with the presence of an extra X chromosome in males, resulting in a total of 47 chromosomes, with the karyotype being 47, XXY. This condition arises from nondisjunction during meiosis, leading to the inclusion of an additional X chromosome. Typically, males have one X and one Y chromosome (46, XY), but in Klinefelter Syndrome, the presence of the extra X chromosome can lead to various physical, developmental, and reproductive features.

The unique characteristics of Klinefelter Syndrome often include taller stature, reduced muscle strength, and infertility, among others, largely due to the effects of the additional X chromosome on hormone levels and secondary sexual characteristics. It is important to recognize that this condition is not caused by any of the other chromosomal abnormalities listed. Each of those karyotypes corresponds to different syndromes: 45, X0 indicates Turner Syndrome, 47, XYY is associated with Jacobs Syndrome, and 47, XXX is linked to Triple X Syndrome. Therefore, 47, XXY is the hallmark genetic anomaly indicative of Klinefelter Syndrome.

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