Molecular markers
Molecular cytology competency assessment
Inherited disease

Topic Completed: 1 February 2014

Revised: 4 January 2019, last major update February 2014

Copyright: (c) 2002-2018,, Inc.

PubMed Search: Inherited disease [title] cytopathology

Zubair W. Baloch, M.D., Ph.D.
Page views in 2018: 58
Page views in 2019 to date: 40
Cite this page: Baloch Z.W. Inherited disease. website. Accessed October 22nd, 2019.
Medical knowledge
  1. Understand the molecular basis of inherited disease
    • Deletion, duplication and insertion mutations
    • Missense, nonsense, null and frameshift mutations
    • Mutations affecting RNA splicing and stability
    • Mutations altering transcription
  2. Understand the patterns of inheritance
    • Autosomal dominant and recessive disorders
    • Sex linked disorders
    • Multifactorial inheritance
    • Mitochondrial inheritance
    • Nonclassical patterns of single gene inheritance
      • Mosiacism
      • Imprinting
      • Uniparental disomy
      • Trinucleotide repeat disorders
Practice based learning and systems based practice
  1. Understand the molecular basis of inherited disorders, recognize patterns of inheritance and utility of specific molecular assay employed to diagnose these disorders
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