Genetic and Chromosomal Disorders

Topics covered

1. 01Patterns of inheritance — autosomal, X-linked, mitochondrial
2. 02Down syndrome — features, diagnosis, and management
3. 03Turner and Klinefelter syndromes
4. 04Inborn errors of metabolism — screening and presentation
5. 05Congenital hypothyroidism and newborn screening
6. 06Muscular dystrophies in children
7. 07Dysmorphology — approach to the child with congenital anomalies
8. 08Genetic counselling and prenatal diagnosis
9. 09Common single-gene disorders in paediatric practice
10. 10Multifactorial and teratogenic causes of congenital malformation