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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
What will be the phenotype of progeny, if a carrier haemophilic female marries a normal male?
Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
Which of the following traits is never observed in a human female?
Identify I and II in the given diagram of chromosome.

Choose the correct option which appropriately classifies the following disorders into Mendelian and chromosomal disorders:
Colour blindness, Down syndrome, Sickle cell anaemia, Turner syndrome, Thalassemia, Haemophilia, Phenylketonuria, Klinefelter syndrome.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Down’s syndrome is due to ______.
The most striking example of point mutation is found in a disease called ______.
Which of the folowing is a correct match?
Give the genotype of Klinefelter’s syndrome.
