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CBL 3 (Semester – 1) Foundation Module 1st Year M.B.B.S.



A 5-month-old baby girl came in paediatric OPD. Mother was worried that baby was not gaining weight. On examination facial features were different from parents and baby is hypotonic.


Learning Objectives:


  1. Anatomy
  2. What are the different parts of a cell?
  3. What are the main histological features of each part of a cell?


  1. Physiology:
  2. What are the different types of chromosomes? Mention the physiological number.
  3. Briefly discuss the structure of chromosomes?
  4. What is the difference between genotype and phenotype?
  5. Discuss the role of nucleus in determining the genotype and phenotype?


  1. Biochemistry
  2. Define the following terms:
    1. Mutation
    2. Deletion
    3. Insertion
    4. Down Syndrome


  1. Community Health Science (Ethical and Social Issue)
  2. Preventive measures for Down syndrome.
  3. Early diagnosis and decision regarding continuation of pregnancy.
  4. Education and training of children with Down syndrome to interact with community and to prevent them from abuse.
  5. Counselling and Training of the parents.


  1. Clinical
  2. What are the probable differential diagnoses for this case?
  3. What is the most likely diagnosis for this case?
  4. Which points from the case scenario helped you to make the diagnosis?
  5. What are the other clinical features related to this case?
  6. What are the other syndromes associated with numerical and structural chromosomal abnormalities?