Class 12 · Principles of Inheritance and Variation

Chromosomal Abnormalities & Genetic Disorders — NEET Biology

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This 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.

NCERT Biology · Class 12 · Chapter 4 · Paragraph 102
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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

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