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Question
Mention the symptoms of Down's syndrome.
Solution
Severe mental retardation, defective development of the central nervous system, increased separation between the eyes, flattened nose, ears are malformed, mouth is constantly open and the tongue protrudes.
RELATED QUESTIONS
Klinefelters’ syndrome is characterized by a karyotype of ____________.
Females with Turners’ syndrome have
Pataus’ syndrome is also referred to as ____________.
Which of the following is not correct?
What is Down’s syndrome? Give its symptoms and cause. Why is it that the chances of having a child with Down’s syndrome increases if the age of the mother exceeds forty years?
How was it concluded that genes are located on chromosomes?
Define aneuploidy. How is it different from polyploidy? Describe the individuals having following chromosomal abnormalities.
- Trisomy of 21st Chromosome
- XXY
- XO
|
The chromosome number is fixed for all normal organisms leading to species specification whereas any abnormality in the chromosome number of an organism results into abnormal individuals. For example, in humans, 46 is the fixed number of chromosomes both male and female. In males it is '44 + XY' and in females, it is '44 +XX'. Thus the human male is heterogametic, in other words produces two different types of gametes one with '22 + X' chromosomes and the other with '22 + Y' chromosomes respectively. Human female, on the other hand, is homo gametic i.e. produce only one type of gamete with '22 + X' chromosomes only. Sometimes an error may occur during the meiosis of the cell cycle, where the sister chromatids fail to segregate called nondisjunction, leading to the production of abnormal gametes with altered chromosome numbers. On fertilisation, such gametes develop into abnormal individuals. |
(a) State what is aneuploidy. (1)
(b) If during spermatogenesis, the chromatids of sex chromosomes fail to segregate during meiosis, write only the different types of gametes with altered chromosome numbers that could possibly be produced. (1)
(c) A normal human sperm (22 + Y) fertilises an ovum with karyotype '22 +XX'. Name the disorder the offspring thus produced would suffer from and write any two symptoms of the disorder. (2)
OR
(c) Name the best-known and most common autosomal aneuploid abnormality in humans and write any two symptoms. (2)
