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प्रश्न
Write a note on Down’s syndrome.
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उत्तर
Down syndrome:
- Individuals suffering from Down syndrome will have 47 chromosomes instead of the normal number 46.
- 21st Trisomy occurs due to non-disjunction or failure of separation of chromosomes (autosomes) during gamete formation.
- Following are the symptoms of Down syndrome:
- Mild or moderate mental retardation and poor skeletal development.
- Distinct facial features like small head, ears, and mouth.
- The face is typically flat and rounded with a flat nose, open mouth, and protruding tongue.
- Eyes slant up and out with internal epicanthal folds.
- Flat hands and stubby fingers, the palm is broad with a single palmer crease.
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संबंधित प्रश्न
Why is pedigree analysis done in the study of human genetics? State the conclusions that can be drawn from it.
What are the different characters that develop due to Klinefelter's syndrome?
Match the Column I and Column II and select the correct option.
| List-I | List-II | ||
| i. | Holandric genes | a. | Pleiotropy |
| ii. | Multiple effects of a single gene | b. | Hypertrichosis |
| iii. | Skin colour in man | c. | Multiple Alleles |
| iv. | ABO Blood types | d. | Polygenic inheritance |
The correct answer is
Match the Column-I with Column-II and choose the CORRECT answer
| Column-I | Column-II | ||
| P. | Klinefelter syndrome | i. | Mutation in autosomal gene |
| Q. | Thalassaemia | ii. | Mutation sex chromosome linked gene |
| R. | Down syndrome | iii. | Trisomy of autosome |
| S. | Colour blindness | iv. | Trisomy of sex chromosome |
Thalassemia and sickle cell anemia are caused due to a problem in globin molecule synthesis. Select the correct statement.
A woman with albinic father marries an albinic man. The proportion of her progeny is ______.
Extra chromosome ‘X’ is present in which one of the following cases?
Klinefelters’ syndrome is characterised by a karyotype of ______.
Clotting of blood is to ______.
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
