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प्रश्न
Describe Turner's syndrome.
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उत्तर
- Turner's syndrome is a sex chromosomal disorder caused by the non-disjunction of chromosomes during the formation of an egg.
- The individual born with Turner’s syndrome has 44 autosomes with XO. They are phenotypically female.
- They have short stature (height) and a webbed neck, a lower posterior hairline, a broad shield-shaped chest, poorly developed ovaries and breasts, and low intelligence.
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संबंधित प्रश्न
What will be the phenotype of progeny, if a carrier haemophilic female marries a normal male?
State any two symptoms of Down’s syndrome.
Identify the characteristics that are observed in an individual suffering from Klinefelter syndrome.
i. Gynaecomastia, under developed testis and no spermatogenesis.
ii. Voice pitch is harsh.
iii. They are tall with long arms.
Identify the disease caused by an autosomal primary non-disjunction.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
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 |
Which of the following is called as Royal disease?
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
Give the genotype of Klinefelter’s syndrome.
Describe Klinefelter’s syndrome.
