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प्रश्न
Give reasons for the development of Turner’s syndrome and also mention its symptoms.
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उत्तर
Turner Syndrome (X monosomy/XO females):
- It is a sex chromosomal disorder caused due to non-disjunction of chromosomes during gamete formation.
- Individual born with Turner syndrome has 44 autosomes with XO.
- They are phenotypically female. They have short stature (height) and webbed neck, lower posterior hair line, broad shield-shaped chest, poorly developed ovaries and breast, and low intelligence.
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संबंधित प्रश्न
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?
In which of the following disorders number of chromosomes present is 47?
(A) Turner’s syndrome
(B) Cushing’s syndrome
(C) Acquired Immuno - Deficiency Syndrome
(D) Down’s syndrome
Name a disorder a human suffers from as a result of the monosomy of the sex chromosome. Give the karyotype and write the symptoms.
Read the following statements and select the correct option.
i. Genetic disorders are broadly categorised as, Mendelian disorders and chromosomal disorders.
ii. Mendelian disorders are caused due to absence or excess of one or more chromosomes or their abnormal arrangement.
iii. Chromosomal disorders are mainly caused due to alteration or mutation in the gene.
Following list indicates various genetic diseases. Identify the diseases that are not caused due to single gene defect.
Huntington's chorea, alkaptonuria, Sickle cell anaemia, Down syndrome, thalassemia, Taysachs disease, Turner syndrome, cystic fibrosis, haemophi Lia, Klinefelter syndrome, albinism
The most striking example of point mutation is found in a disease called ______.
This abnormality occurs due to monosomy (2n - 1); the individual has 2n = 45 chromosomes with 44 + XO genotype.
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?
It is said, that the harmful alleles get eliminated from population over a period of time, yet sickle cell anaemia is persisting in human population. Why?
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 |
