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.
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:
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.
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