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.
- What are the different parts of a cell?
- What are the main histological features of each part of a cell?
- What are the different types of chromosomes? Mention the physiological number.
- Briefly discuss the structure of chromosomes?
- What is the difference between genotype and phenotype?
- Discuss the role of nucleus in determining the genotype and phenotype?
- Define the following terms:
- Down Syndrome
- Community Health Science (Ethical and Social Issue)
- Preventive measures for Down syndrome.
- Early diagnosis and decision regarding continuation of pregnancy.
- Education and training of children with Down syndrome to interact with community and to prevent them from abuse.
- Counselling and Training of the parents.
- What are the probable differential diagnoses for this case?
- What is the most likely diagnosis for this case?
- Which points from the case scenario helped you to make the diagnosis?
- What are the other clinical features related to this case?
- What are the other syndromes associated with numerical and structural chromosomal abnormalities?