Genetic Disorder
CBSE · Class 11 · Biotechnology
Summary of Genetic Disorder for CBSE Class 11 Biotechnology. Key concepts, important points, and chapter overview.
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Overview
Genetic disorders arise from changes in chromosomes or genes. Some disorders are caused by changes in chromosome number, some by changes in chromosome structure, and others by mutations in one gene or several genes together. These disorders may be inherited or may arise because of meiotic errors. Th
Key Concepts
Chromosomal disorders are of two main
Chromosomal disorders are of two main types. Structural abnormalities involve changes in chromosome structure such as deletion, duplication, inversion
Monosomy and trisomy are both forms
Monosomy and trisomy are both forms of aneuploidy. Aneuploidy means the gain or loss of one or a few chromosomes. Polyploidy means multiplication of t
Down syndrome is caused by trisomy
Down syndrome is caused by trisomy 21 due to non-disjunction. The karyotype is 47,XX,+21 in females and 47,XY,+21 in males. It occurs in about 1 per 8
Klinefelter syndrome affects males and has
Klinefelter syndrome affects males and has genotype 47,XXY. The extra X chromosome comes from meiotic non-disjunction. It occurs in about 1 out of 100
Turner syndrome affects females and has
Turner syndrome affects females and has karyotype 45,X, also called monosomy X. It occurs in about 1 in 2,500 newborn girls and is often seen in misca
Learning Objectives
- Understand the difference between structural and numerical chromosomal abnormalities.
- Recognize aneuploidy and polyploidy with correct examples.
- Identify the main features of Down syndrome, Klinefelter syndrome, and Turner syndrome.
- Explain monogenic disorders and their inheritance patterns.
- Distinguish autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant disorders.
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Sources & Official References
- NCERT Official — ncert.nic.in
- CBSE Academic — cbseacademic.nic.in
- CBSE Official — cbse.gov.in
- National Education Policy 2020 — education.gov.in
Content is aligned to the official syllabus. Refer to the board website for the latest curriculum.
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