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Revision: Genetics and Evolution >> Principles of Inheritance and Variation CUET (UG) Principles of Inheritance and Variation

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Theorems and Laws [1]

Laws: Law of Segregation

Law of segregation states that, when a pair of allelomorphs are brought together in the hybrid (F1), they remain together in the hybrid without blending but separate complete and pure during gamete formation. 

  1. Each pair of alleles separates during gamete formation, with one going into each gamete.
  2. No blending occurs; alleles remain pure and distinct.
  3. Gametes fuse randomly during fertilisation to form a zygote.

Key Points

Key Points: Chromosomal Disorders or Abnormalities
Chromosomal Disorder Chromosomal Abnormality Karyotype Major Features Remarks
Down’s Syndrome Extra copy of chromosome 21 (Trisomy 21) 47, +21 Short stature, small round head, furrowed tongue, partially open mouth, broad palm with single crease, mental and physical retardation Most common autosomal aneuploidy
Klinefelter’s Syndrome Extra X chromosome in males 47, XXY Masculine body with feminine traits (gynecomastia), underdeveloped testes, sterile Sex-chromosome aneuploidy
Turner’s Syndrome Absence of one X chromosome 45, XO Short stature, rudimentary ovaries, absence of secondary sexual characters, sterile female Only monosomy compatible with life
Aneuploidy Gain or loss of one or more chromosomes due to non-disjunction 2n ± 1 Severe developmental abnormalities Includes trisomy and monosomy
Polyploidy Increase in whole set of chromosomes due to failure of cytokinesis 3n, 4n, etc. Common in plants; increases size and vigor Rare and usually lethal in animals
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