Class 12 · Principles of Inheritance and Variation

Chromosomal Disorders: Trisomy & Monosomy — NEET Biology

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📖 NCERT Source

These situations are known as trisomy or monosomy of a chromosome, respectively. Such a situation leads to very serious consequences in the individual. Down's syndrome, Turner's syndrome, Klinefelter's syndrome are common examples of chromosomal disorders.

NCERT Biology · Class 12 · Chapter 4 · Paragraph 93
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Match the following genetic disorders with their genetic basis/karyotype and key symptoms/characteristics: Column I (Disorder) A. Down’s syndrome B. Klinefelter’s syndrome C. Turner’s syndrome D. Thalassemia E. Sickle-cell anaemia Column II (Genetic Basis/Karyotype) I. Autosome-linked recessive trait with GAG to GUG mutation II. Trisomy of chromosome 21 III. 47, XXY IV. 45, X0 V. Autosome-linked recessive trait with reduced globin chain synthesis Column III (Key Symptom/Characteristic) P. Sterility, rudimentary ovaries, lack of secondary sexual characters Q. Mental retardation, short stature, partially open mouth R. Gynaecomastia, overall masculine development S. Qualitative problem of incorrect globin functioning, sickle-shaped RBCs T. Quantitative problem of too few globin molecules, anaemia Choose the correct match from the options given below:

📖 Solution & NCERT Explanation
View solution & NCERT explanation

Correct answer: A A-II-Q, B-III-R, C-IV-P, D-V-T, E-I-S

The question tests the knowledge of various genetic disorders, their genetic basis, and characteristic symptoms as described in NCERT. Let's evaluate each match: A. Down’s syndrome (Column I) is caused by Trisomy of chromosome 21 (Column II-II) and characterized by mental retardation, short stature, and partially open mouth (Column III-Q). So, A-II-Q. B. Klinefelter’s syndrome (Column I) has a karyotype of 47, XXY (Column II-III) and leads to overall masculine development with gynaecomastia (Column III-R). So, B-III-R. C. Turner’s syndrome (Column I) is caused by 45, X0 (Column II-IV) and results in sterile females with rudimentary ovaries and lack of secondary sexual characters (Column III-P). So, C-IV-P. D. Thalassemia (Column I) is an autosome-linked recessive trait with reduced globin chain synthesis (Column II-V) causing a quantitative problem of too few globin molecules, leading to anaemia (Column III-T). So, D-V-T. E. Sickle-cell anaemia (Column I) is an autosome-linked recessive trait with a GAG to GUG mutation (Column II-I) leading to a qualitative problem of incorrect globin functioning and sickle-shaped RBCs (Column III-S). So, E-I-S. Option A correctly matches all the disorders with their respective genetic basis/karyotype and key symptoms/characteristics. Option B incorrectly maps C-IV-S. Option C and D also contain incorrect mappings. The core concept tested is the understanding of different Mendelian and Chromosomal genetic disorders, their causes, and their phenotypic expressions.

❓ Frequently Asked Questions
What does NCERT say about These situations are known?
These situations are known as trisomy or monosomy of a chromosome, respectively. Such a situation leads to very serious consequences in the individual.
Has this concept appeared in NEET?
Practice this NCERT concept with questions on MedicNEET.
Which chapter is this from?
Principles of Inheritance and Variation, Class 12 NCERT Biology.

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