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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
Give the genotype of Turner’s syndrome.
Identify the INCORRECT statement.
Identify the option that correctly represents the number of chromosomes in Down syndrome.
Conditions of a karyotype 2n ± 1 and 2n ± 2 are called ______.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Sickle cell anaemia is ______.
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
Which of the following statements regarding Turner's syndrome is incorrect?
Read the following and answer from given below:
According to Mendel, one gene controls the expression of one character only. The ability of a gene to have multiple phenotypic effects because it influences a number of characters are an exception. The gene has multiple phenotypic effects because its ability to control two or more characters can be seen in cotton. In cotton, a gene for the lint also influences the height of the plant, size of the ball, number of ovules, and viability of seeds.
Which of the following disorder is an example of genes with multiple phenotypic effects?
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.
Which of the following correctly describes the composition of chromosomes in a normal human cell?
