Syllabus: Paper I > 1.8(a) Principles of Prehistoric Archaeology > Chronology > Absolute dating methods
Turner and Klinefelter Syndromes — 2014 Paper I
Question · 2014 · Paper I · 15 Marks
Describe Turner and Klinefelter Syndromes in humans.
Model Answer
VAID ICSApproach
- Demand of Question: Describe the chromosomal basis, major clinical features and reproductive consequences of Turner and Klinefelter syndromes.
- Structuring the Response: Explain each syndrome separately and conclude with a brief comparison.
- Key Dimensions to Cover: 45,X, 47,XXY, nondisjunction, gonadal dysgenesis, infertility, secondary sexual characteristics and karyotype.
Model Answer
Introduction: Turner and Klinefelter syndromes are numerical abnormalities of the sex chromosomes, usually arising from meiotic nondisjunction.
Turner Syndrome
Turner syndrome usually results from monosomy of the X chromosome.
Karyotype: 45,X
It occurs in phenotypic females.
Major features
- short stature;
- webbed neck in some cases;
- broad chest;
- ovarian dysgenesis;
- poorly developed secondary sexual characteristics;
- primary amenorrhoea;
- infertility.
Because ovarian development is impaired, estrogen levels are generally low.
Some individuals show mosaic forms such as:
45,X / 46,XX
which may produce milder manifestations.
Klinefelter Syndrome
Klinefelter syndrome results from the presence of an additional X chromosome in a phenotypic male.
Karyotype: 47,XXY
Major features
- tall stature;
- long limbs;
- small testes;
- reduced testosterone production;
- sparse facial/body hair;
- gynecomastia in some individuals;
- infertility, often due to impaired spermatogenesis.
Mosaic forms such as:
46,XY / 47,XXY
may also occur.
Comparison
| Turner Syndrome | Klinefelter Syndrome |
| 45,X | 47,XXY |
| Phenotypic female | Phenotypic male |
| Short stature | Often tall stature |
| Ovarian dysgenesis | Testicular dysfunction |
| Amenorrhoea | Reduced spermatogenesis |
| Usually infertile | Usually infertile |
Conclusion
Turner and Klinefelter syndromes demonstrate how abnormalities in sex chromosome number can influence growth, gonadal development and reproduction. Cytogenetic diagnosis is important for clinical management and genetic counselling.
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UPSC Anthropology Optional 2014 — Paper I
28 questions8(a) Discuss Ageing and Senescence. Describe either the biological or social theories of Ageing.
20 Marks
Syllabus: Paper I > 10. Human growth and development > Ageing and senescence > Theories of ageing
Syllabus: Paper I > 9.8 Epidemiological Anthropology > Infectious and non-infectious diseases
5(d) Asian Homo erectus
10 Marks150 words
Syllabus: Paper I > 1.6 Phylogenetic status, characteristics and distribution > Homo erectus in Asia
5(a) Cross-sectional methods of studying human growth
10 Marks150 words
Syllabus: Paper I > 10. Human growth and development > Methodologies for growth studies > Cross-sectional method
1(a) Double Descent
10 Marks150 words
Syllabus: Paper I > 2.5 Kinship > Descent > Double descent
1(d) Ecological Anthropology
10 Marks150 words
Syllabus: Paper I > 9.7 Concepts and methods of Ecological Anthropology > Bio-cultural adaptations
5(c) Epidemiological Anthropology
10 Marks150 words
Syllabus: Paper I > 9.8 Epidemiological Anthropology > Health and disease
Syllabus: Paper I > 9.3 Mendelian population and Hardy-Weinberg law > Forces changing gene frequency
5(e) Fertility and Fecundity
10 Marks150 words
Syllabus: Paper I > 11.3 Biological and socio-ecological factors influencing fecundity, fertility, natality and mortality
1(e) Field work tradition in Anthropology
10 Marks150 words
Syllabus: Paper I > 8.1 Research Methods > Fieldwork tradition in Anthropology
4(a) What is functionalism ? Discuss the functional approach to the understanding of Religion.
20 Marks
Syllabus: Paper I > 6. Anthropological Theories > Functionalism > Functional approach to religion
1(b) Genealogical Method
10 Marks150 words
Syllabus: Paper I > 8.3 Research Methods: Tools of data collection > Genealogy
5(b) Genetic Counselling
10 Marks150 words
Syllabus: Paper I > 9.4(d) Genetic screening, genetic counselling and human DNA profiling
Syllabus: Paper I > 9.7 Man's physiological responses to environmental stresses > High altitude climate
Syllabus: Paper I > 2.1 The Nature of Culture > Concept and characteristics of culture > Culture and human uniqueness
Syllabus: Paper I > 4. Political Organization and Social Control > Law and justice in simple societies
1(c) Major sub-divisions of Anthropology
10 Marks150 words
Syllabus: Paper I > 1.3 Main branches of Anthropology: their scope and relevance
Syllabus: Paper I > 2.3 Marriage > Definition and universality > Types of marriage
Syllabus: Paper I > 11.1 Relevance of menarche, menopause and other bio-events to fertility
Syllabus: Paper I > 1.8(b) Cultural Evolution: broad outlines of prehistoric cultures > Neolithic
Syllabus: Paper I > 5. Religion > Ritual and ceremony > Rites of passage (van Gennep)
Syllabus: Paper I > 1.1 Meaning, Scope and Development of Anthropology > Relevance of Anthropology
Syllabus: Paper I > 1.5 Characteristics of Primates > Comparative anatomy of man and apes
Syllabus: Paper I > 10. Concept of human growth and development > Stages of growth
Syllabus: Paper I > 4. Political Organization and Social Control > Band, tribe, chiefdom, state and stateless societies
Syllabus: Paper I > 2.2 The Nature of Society > Social stratification > Status and role; ascribed and achieved status
Syllabus: Paper I > 9.4(b) Sex chromosomal aberrations > Klinefelter (XXY) and Turner (XO)