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Question
Identify ‘a’, ‘b’, ‘c’, ‘d’, ‘e’ and ‘f’ in the table given below:
| S. No. | Syndrome | Cause | Characteristics of affected individuals | Sex (male/female/both) |
| 1. | Down’s | Trisomy of 21 |
‘a’ |
‘b’ |
| 2. | ‘c’ | XXY | Overall masculine development | ‘d’ |
| 3. | Turner’s | 45 with XO |
‘e’ |
‘f’ |
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Solution
| No | Syndrome | Cause | Characteristics of affected individuals |
Sex/Male/Femal e/Both |
| 1. | Down’s | Trisomy of 21 |
(i) Broad forehead (ii) Permanently open mouth, protruding and furrowed tongue and projecting lower lip. |
Both |
| 2. | Klinefelter’s | XXY | Overall masculine development | Male |
| 3. | Turner’s | 45 with XO |
(i) Poorly developed ovaries, webbed neck, broad chest with under developed breasts and below average intelligence. (ii) Body hair absent |
Female |
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RELATED QUESTIONS
Given below is the representation of amino acid composition not the relevant translated portion of β-chain of haemoglobin, related to the shape of human red blood cells
(a) Is this representation indicating a normal human or a sufferer from certain related genetic disease? Give reason in support of your answer.
(b) What difference would be noticed in the phenotype of the normal and the sufferer related to this gene?
(c) Who are likely to suffer more from the defect related to the gene represented the males, the females or both males and females equally? And why?
State any two symptoms of Down’s syndrome.
Feminised males have ______ chromosomes.
Identify I and II in the given diagram of chromosome.
In Klinefelter syndrome, an extra chromosome is a result of non-disjunction of X-chromosome during ____________.
A disease caused by an autosomal primary non-disjunction is ______.
The person with Turner’s syndrome has ______.
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
Give the genotype of Klinefelter’s syndrome.
Match the disorder in column I with their nature in column II.
| Column I | Column II | ||
| i. | Thalassemia | a. | X monosomy |
| ii. | Turner’s syndrome | b. | Extra X chromosomes in male |
| iii. | Klinefelter’s syndrome | c. | 21st Trisomy |
| iv. | Down’s syndrome | d. | Mendelian disorder |
