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प्रश्न
What are the different characters that develop due to Klinefelter's syndrome?
उत्तर
Klinefelter syndrome (XXY males):
- It is a chromosomal disorder caused due to an extra X chromosome in males. Thus genotype of individuals is 44 + XXY. They are described as feminized males.
- The extra chromosome is a result of the non-disjunction of the X-chromosome during meiosis.
- The individual is male and has overall masculine development.
- Individuals have harsh voice pitch and under developed testis.
- They are tall with long arms, feminine development (development of breast i.e. Gynaecomastia), and spermatogenesis does not occur, therefore, individuals are sterile.
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संबंधित प्रश्न
If only one 'X' chromosome is found in a female person, which of the following symptoms she will show?
- epicanthal skin fold
- webbing of neck
- small testis and absence of spermatogenesis
- presence of simian crease on the palm
Give any 'two' names of X-linked diseases
A child suffering from Thalassemia is born to a normal couple. But the mother is being blamed by the family for delivering a sick baby.
(a) What is Thalassemia?
(b) How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
(c) List the values your counselling can propagate in the families.
Identify the disease caused by an autosomal primary non-disjunction.
Extra chromosome ‘X’ is present in which one of the following cases?
Trisomy is represented by ______.
Clotting of blood is to ______.
Identify chromosomal disorder caused due to non-disjunction of the 21st number of chromosomes and enlist its symptoms.
Fused ear lobes appear in the progeny due to an autosomal recessive gene. Work out the genotypes of number in the given pedigree.
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.
