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Principles of Inheritance and Variation - Chromosomal Disorders

Grade 12CBSEBiology

Review the key concepts, formulae, and examples before starting your quiz.

🔑Concepts

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Chromosomal disorders are caused due to the absence, excess, or abnormal arrangement of one or more chromosomes.

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Aneuploidy is the phenomenon of gain or loss of a chromosome(s) due to the failure of segregation of chromatids during cell division. Examples include 2n+12n + 1 (Trisomy) and 2n−12n - 1 (Monosomy).

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Polyploidy is a condition where an increase in a whole set of chromosomes occurs in an organism, often seen in plants due to failure of cytokinesis after the telophase stage (3n,4n,etc.3n, 4n, etc.).

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Down's Syndrome is caused by the trisomy of chromosome 2121. The affected individual has a total of 4747 chromosomes.

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Klinefelter's Syndrome is a sex-linked chromosomal disorder caused by the presence of an additional copy of the XX chromosome in males, resulting in a karyotype of 47,XXY47, XXY.

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Turner's Syndrome is caused due to the absence of one of the XX chromosomes in females, resulting in a karyotype of 45,X045, X0.

📐Formulae

2n+1=47 (Trisomy)2n + 1 = 47 \text{ (Trisomy)}

2n−1=45 (Monosomy)2n - 1 = 45 \text{ (Monosomy)}

Genotype of Down’s Syndrome=45A+XX or 45A+XY\text{Genotype of Down's Syndrome} = 45A + XX \text{ or } 45A + XY

Genotype of Klinefelter’s Syndrome=44A+XXY\text{Genotype of Klinefelter's Syndrome} = 44A + XXY

Genotype of Turner’s Syndrome=44A+X0\text{Genotype of Turner's Syndrome} = 44A + X0

💡Examples

Problem 1:

Calculate the total number of chromosomes in an individual suffering from Turner's Syndrome, given the normal diploid number is 2n=462n = 46.

Solution:

2n−1=452n - 1 = 45

Explanation:

Turner's Syndrome is a case of monosomy where one sex chromosome (XX) is missing. The calculation is: 46−145\begin{array}{r} 46 \\ - 1 \\ \hline 45 \end{array}

Problem 2:

Determine the chromosome count for an individual with Down's Syndrome.

Solution:

2n+1=472n + 1 = 47

Explanation:

Down's Syndrome involves the trisomy of chromosome 2121, meaning there is one extra chromosome added to the standard diploid set: 46+147\begin{array}{r} 46 \\ + 1 \\ \hline 47 \end{array}