Class 12 · Principles of Inheritance and Variation

Klinefelter's Syndrome: XXY Karyotype — NEET Biology

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📖 NCERT Source

Klinefelter's Syndrome: This genetic disorder is also caused due to the presence of an additional copy of X-chromosome resulting into a karyotype of 47, XXY. Such an individual has overall masculine development, however, the feminine development (development of breast, i.e., Gynaecomastia) is also expressed. Such individuals are sterile.

🖼️Related NCERT figure: Two human figures showing comparison between (a) tall stature with feminised character and (b) short stature and underdeveloped feminine character, illustrating genetic disorders related to sex chromosome composition. (Figure 4.17 Diagrammatic representation of genetic disorders due to sex chromosome composition in humans : (a) Klinefelter Syndrome; (b) Turner's Syndrome)
NCERT Biology · Class 12 · Chapter 4 · Paragraph 95
How NTA Uses This Concept

Klinefelter's Syndrome is caused by an extra X chromosome (47, XXY karyotype), resulting in individuals with masculine development but also feminine features like breast development (gynecomastia). They are sterile and cannot produce offspring. Students often confuse this with Turner's syndrome (45, XO) which affects females, or forget the XXY genotype entirely. The key point: always remember XXY = Klinefelter's (male with female characteristics), while XO = Turner's (female with underdeveloped features). NTA tests whether you can correctly identify the chromosome abnormality and its clinical manifestations—expect questions asking you to match karyotype with syndrome or identify characteristic symptoms from a description.

Solve This NEET Question

This paragraph was tested 2 times in NEET.

Q1 of 2NEET 2025

A male child with XXY genotype will suffer from which disorder? (NEET 2025)

Q2 of 2NEET 2022

Which of the following statements are correct about Klinefelter’s Syndrome? A. This disorder was first described by Langdon Down (1866). B. Such an individual has overall masculine development. However, the feminine development is also expressed. C. The affected individual is short statured. D. Physical, psychomotor and mental development is retarded. E. Such individuals are sterile. Choose the correct answer from the options given below: (NEET 2022)

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