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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?
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’ |
Give a detail account of thalassemia.
Which of the following characteristics are observed in a person suffering from Turner syndrome?
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
A disease caused by an autosomal primary non-disjunction is ______.
It is well known that Queen Victoria of England was a carrier for haemophilia. Since this is an X-linked disease, it can be predicted that ______.
Females with Turner’s syndrome have ______.
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 |
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
