Chromosomal Abnormalities & Genetic Disorders — NEET Biology
📚 Practice ConceptThis helped in understanding the mutational basis of genetic disorders. Down's syndrome is due to trisomy of chromosome 21, where there is an extra copy of chromosome 21 and consequently the total number of chromosome becomes 47. In Turner's syndrome, one X chromosome is missing and the sex chromosome is as XO, and in Klinefelter's syndrome, the condition is XXY. These can be easily studied by analysis of Karyotypes.
Match the following columns and choose the correct option. Column I (Disorder/Genetic Basis) A. Trisomy of chromosome 21 B. Absence of one X chromosome (45, X0) C. Additional X chromosome (47, XXY) D. Autosomal recessive, leads to anaemia E. X-linked recessive, blood clotting defect Column II (Associated Disorder) I. Klinefelter’s syndrome II. Turner’s syndrome III. Down’s syndrome IV. Haemophilia V. Thalassemia
View solution & NCERT explanation
Correct answer: B — A-III, B-II, C-I, D-V, E-IV
This question requires matching genetic bases/characteristics with the associated disorders. A. 'Trisomy of chromosome 21' causes Down’s syndrome, so A-III is correct. B. 'Absence of one X chromosome (45, X0)' characterizes Turner’s syndrome, so B-II is correct. C. 'Additional X chromosome (47, XXY)' is the genetic basis for Klinefelter’s syndrome, so C-I is correct. D. 'Autosomal recessive, leads to anaemia' describes Thalassemia, so D-V is correct. E. 'X-linked recessive, blood clotting defect' is the description for Haemophilia, so E-IV is correct. Option B correctly matches all pairs. The core concept tested is the genetic cause and classification of various Mendelian and Chromosomal disorders.
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