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Questions
Identify chromosomal disorder caused due to non-disjunction of the 21st number of chromosomes and enlist its symptoms.
Identify chromosomal disorder caused due to non-disjunction of 21% chromosome and enlist its characteristics.
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Solution
Down syndrome is usually caused by an error in cell division called non-disjunction. Non-disjunction results in an embryo with three copies of chromosome 21 instead of the usual two.
Common Symptoms (Characteristics) of Down syndrome are:
- Mild or moderate mental retardation and poor skeletal development.
- Distinct facial features like small head, ears and mouth.
- Eyes slant up and out with internal epicanthal folds.
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Which of the folowing is a correct match?
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.
What are chromosomal disorders?
