VAID'S ICS – Best UPSC Anthropology Coaching in Delhi Since 1985

Comprehensive Classroom Course · Admissions openRegister now
Home/Anthropology/Mains PYQ/2015/Paper I/Human Genetics & Human Biology
UPSC MainsAnthropology Optional Paper I 2015 10 Marks Model Answer Available

Down’s Syndrome — 2015 Paper I

Question · 2015 · Paper I · 10 Marks

Down's Syndrome.

Model Answer

VAID ICS

Approach

  • Demand of Question: Explain the chromosomal basis, major phenotypic features and forms of Down syndrome.
  • Structuring the Response: Define trisomy 21, explain mechanisms producing it, list characteristic manifestations and mention diagnosis.
  • Key Dimensions to Cover: Chromosome 21, nondisjunction, translocation, mosaicism, maternal age, physical features, intellectual disability and prenatal diagnosis.

Model Answer

Introduction: Down syndrome is a chromosomal disorder caused by the presence of additional genetic material from chromosome 21, most commonly resulting in trisomy 21.

The normal chromosome number is:

46 → Down syndrome commonly 47, +21

Major types

  1. Free trisomy 21: Usually produced by meiotic nondisjunction; it constitutes the great majority of cases.
  2. Translocation Down syndrome: Extra chromosome-21 material becomes attached to another chromosome, often through a Robertsonian translocation.
  3. Mosaic Down syndrome: Only some cells possess trisomy 21 because nondisjunction occurs after fertilization.

Characteristic features

Common manifestations include:

  • characteristic facial appearance;
  • epicanthic folds;
  • flat facial profile;
  • hypotonia;
  • short stature;
  • single transverse palmar crease in some individuals;
  • varying degrees of intellectual disability.

Congenital heart defects and certain other medical problems occur with increased frequency.

Maternal age

Risk of meiotic nondisjunction increases significantly with advancing maternal age, although Down syndrome can occur at any maternal age.

Diagnosis may involve:

  • prenatal screening;
  • chorionic villus sampling;
  • amniocentesis;
  • chromosomal analysis.

Conclusion: Down syndrome is an important example of autosomal numerical chromosomal abnormality, illustrating the relationship between meiotic errors, genotype and human phenotypic development.

Want feedback on your answer?

Join the Anthropology workshop or get structured answer-writing guidance from VAID ICS.

UPSC Anthropology Optional 2015 — Paper I

28 questions
Syllabus: Paper I > 1.3 Main branches of Anthropology > Archaeological Anthropology
2015Paper IFoundations of AnthropologyModel answer available
Syllabus: Paper I > 12. Applications of Anthropology > DNA technology in diseases and medicine
2015Paper IApplied & Forensic AnthropologyModel answer available

5(b) Down's Syndrome.

10 Marks150 words
Syllabus: Paper I > 9.4(c) Autosomal aberrations > Down syndrome
2015Paper IHuman Genetics & Human BiologyModel answer available
Syllabus: Paper I > 6. Anthropological Theories > Historical Particularism (Boas)
2015Paper IAnthropological TheoriesModel answer available

1(d) Horticulture.

10 Marks150 words
Syllabus: Paper I > 3. Economic Organization > Modes of subsistence > Horticulture
2015Paper IEconomic & Political AnthropologyModel answer available

1(c) Incest Taboos.

10 Marks150 words
Syllabus: Paper I > 2.3 Marriage > Rules of marriage > Incest taboo
2015Paper IMarriage & FamilyModel answer available
Syllabus: Paper I > 10. Human growth and development > Methodologies for growth studies > Longitudinal method
2015Paper IHuman Genetics & Human BiologyModel answer available
Syllabus: Paper I > 11.1 Relevance of menarche, menopause and other bio-events to fertility
2015Paper IHuman Genetics & Human BiologyModel answer available
Syllabus: Paper I > 1.8(b) Cultural Evolution: broad outlines of prehistoric cultures > Palaeolithic
2015Paper IPrehistoric ArchaeologyModel answer available

1(b) Society and Culture.

10 Marks150 words
Syllabus: Paper I > 2.2 The Nature of Society > Society and culture
2015Paper ICulture & SocietyModel answer available