Question:

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 metal development is retarded. E. Such individuals are sterile. 

Choose the correct answer from the options given below:

Updated On: Jun 2, 2024
  • C and D only

  • B and E only

  • A and E only

  • A and B only

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The Correct Option is B

Solution and Explanation

Klinefelter's Syndrome is a genetic disorder where a male is born with an extra X chromosome (XXY instead of the usual XY). The correct statements about Klinefelter's Syndrome are:

B. Such an individual has overall masculine development. However, the feminine development is also expressed. 
E. Such individuals are sterile.

The other statements are incorrect:

A. Klinefelter's Syndrome was not first described by Langdon Down. Down syndrome is a separate genetic disorder. 
C. Short stature is not a characteristic feature of Klinefelter's Syndrome. 
D. Physical, psychomotor, and mental development may be affected to varying degrees, but it's not a universal characteristic.

Therefore, The correct option is (B): B and E only

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Concepts Used:

Principles of Inheritance and Variation - Mutation

A Mutation is a change in the sequence of our DNA base pairs caused by numerous environmental stimuli such as UV light or mistakes during DNA replication. Germline mutations take place in the eggs and sperm and can be passed onto offspring, whereas somatic mutations take place in body cells and are not passed on.

Types of Mutations

There are three types of mutations, which are as follows:

Silent mutation

It refers to any change in DNA sequence that has no effect on the amino acid sequence in a protein or the functions that a protein performs. There is no phenotypic indication that a mutation has occurred.

Nonsense mutation

When there is a change in the sequence of base pairs due to a point mutation, that results in a stop codon. This leads to a protein that is either shortened or non-functional.

Missense mutation

A missense mutation occurs when a point mutation causes a change in the codon, which then codes for another amino acid.

The mutation is caused by the following factors:

Internal Causes

When DNA copies incorrectly, the majority of mutations occur. Evolution occurs as a result of all of these mutations. DNA makes a copy of itself during cell division. When a copy of DNA isn't flawless, it's called a mutation since it differs somewhat from the original DNA.

External Causes

When certain chemicals or radiations are used to break down DNA, it causes the DNA to break down. The thymine dimers are broken by UV radiation, resulting in altered DNA.