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प्रश्न
During a medical investigation, an infant was found to possess an extra chromosome 21. Describe the symptoms the child is likely to develop later in the life.
During a medical investigation, an infant was found to possess an extra chromosome 21. Tell the symptoms of the child is likely to develop in the life.
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उत्तर
An additional copy of chromosome number 21 (trisomy of 21) leads to Down’s syndrome. The affected individual will have:
- short statured with small round head
- furrowed tongue
- partially open mouth
- broad palm with characteristic palm crease
- retarded physical, psychomotor and mental development
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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?
What is ‘syndrome’?
What do sex linked traits appear in males than in females?
Match the column-I with column-II and re-write the matching pairs.
| Column-I | Column-II |
| 1. 21 trisomy | a. Turner’s syndrome |
| 2. X-monosomy | b. Klinefelter’s syndrome |
| 3. Holandric traits | c. Down's syndrome |
| 4. Feminized male | d. Hypertrichosis |
Identify I and II in the given diagram of chromosome.

In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Extra chromosome ‘X’ is present in which one of the following cases?
Rajesh and Mahesh have defective haemoglobin due to genetic disorders. Rajesh has too few globin molecules while Mahesh has incorrectly functioning globin molecules. Identify the disorder they are suffering from.
| Rajesh | Mahesh | |
| A. | Sickle cell anaemia - an autosome linked recessive trait | Thalassemia - an autosome linked dominant trait |
| B. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked recessive trait |
| C. | Sickle cell anemia - an autosome linked recessive trait | Thalassemia - an autosome linked recessive blood disorder |
| D. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked dominant trait |
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.
Turner's syndrome is an example of ______
Why is thalassemia cotegorised as a Mendelian disorder? Write the symptoms and explain the causes of the disease. How does it differ from Sickle cell anaemia?
