Molecular markers
Molecular cytology competency assessment
Inherited disease

Author: Zubair W. Baloch, M.D., Ph.D. (see Authors page)

Revised: 7 February 2018, last major update February 2014

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

PubMed Search: Inherited disease [title] cytopathology

Cite this page: Baloch, Z.W. Inherited disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/molecularcompinherited.html. Accessed November 12th, 2018.
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