CBSE 2023 · Region 5 · Set 2 · Q29 · 4 marks
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 $\displaystyle 46$ is the fixed number of chromosomes both in male and female. In male it is '$\displaystyle 44$ + XY' and in female it is '$\displaystyle 44$ + XX'. Thus the human male is heterogametic, in other words produces two different types of gametes one with ' $\displaystyle 22+\mathrm{X}$ ' chromosomes and the other with ' $\displaystyle 22+\mathrm{Y}$ ' chromosomes respectively. Human female, on the other hand is homogametic i.e. produces only one type of gamete with ' $\displaystyle 22+$ X' chromosomes only. Sometimes an error may occur during meiosis of cell cycle, where the sister chromatids fail to segregate called nondisjunction, leading to the production of abnormal gametes with altered chromosome number. On fertilisation such gametes develop into abnormal individuals.(a)State what is aneuploidy.(b)If during spermatogenesis, the chromatids of sex chromosomes fail to segregate during meiosis, write only the different types of gametes with altered chromosome number that could possibly be produced.A normal human sperm ($\displaystyle 22$ + Y) fertilises an ovum with karyotype '$\displaystyle 22$ + XX'. Name the disorder the offspring thus produced would suffer from and write any two symptoms of the disorder.Name a best known and most common autosomal aneuploid abnormality in human and write any two symptoms.
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 $\displaystyle 46$ is the fixed number of chromosomes both in male and female. In male it is '$\displaystyle 44$ + XY' and in female it is '$\displaystyle 44$ + XX'. Thus the human male is heterogametic, in other words produces two different types of gametes one with ' $\displaystyle 22+\mathrm{X}$ ' chromosomes and the other with ' $\displaystyle 22+\mathrm{Y}$ ' chromosomes respectively. Human female, on the other hand is homogametic i.e. produces only one type of gamete with ' $\displaystyle 22+$ X' chromosomes only. Sometimes an error may occur during meiosis of cell cycle, where the sister chromatids fail to segregate called nondisjunction, leading to the production of abnormal gametes with altered chromosome number. On fertilisation such gametes develop into abnormal individuals.
(a)
State what is aneuploidy.
(b)
If during spermatogenesis, the chromatids of sex chromosomes fail to segregate during meiosis, write only the different types of gametes with altered chromosome number that could possibly be produced.
A normal human sperm ($\displaystyle 22$ + Y) fertilises an ovum with karyotype '$\displaystyle 22$ + XX'. Name the disorder the offspring thus produced would suffer from and write any two symptoms of the disorder.
Name a best known and most common autosomal aneuploid abnormality in human and write any two symptoms.
Marking-scheme solution
(a) Gain or loss of chromosome due to failure of segregation of chromatids during cell division cycle is known as aneuploidy.
(b) $\displaystyle 22$ + XY, $\displaystyle 22$ + $\displaystyle 0$
(c) Klinefelter's syndrome
Gynaecomastia/ feminine development, sterile individual, tall stature, overall masculine development
OR
(c) Down's Syndrome:
Short statured with small round head , furrowed tongue , partially open mouth , broad palm with palm crease , physical/ psychomotor/mental retardation , flat back of head , loops on finger tips , congenital heart disease , big and wrinkled tongue , broad flat face
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CBSE Class 12 Biology past-paper question from the 2023board exam, with the answer as CBSE’s own marking scheme gives it. Where our answers come from.