Genetic Counseling

  1. Core Scientific Principles for Genetic Counseling
    1. Fundamentals of Human Genetics
      1. DNA Structure and Function
        1. Double Helix Structure
          1. Base Pairing Rules
            1. DNA Replication
            2. Gene Organization
              1. Gene Structure
                1. Exons and Introns
                  1. Regulatory Elements
                  2. Chromosome Structure
                    1. Chromatin Organization
                      1. Chromosome Banding
                        1. Centromeres and Telomeres
                        2. Gene Expression
                          1. Transcription Process
                            1. RNA Processing
                              1. Translation Mechanism
                                1. Gene Regulation
                                2. The Human Genome
                                  1. Genome Organization
                                    1. Coding vs. Non-coding Regions
                                      1. Repetitive Elements
                                        1. Genome Variation
                                      2. Patterns of Inheritance
                                        1. Mendelian Inheritance
                                          1. Autosomal Dominant
                                            1. Inheritance Pattern
                                              1. Key Features
                                                1. Risk Assessment
                                                  1. Common Examples
                                                  2. Autosomal Recessive
                                                    1. Inheritance Pattern
                                                      1. Key Features
                                                        1. Carrier Status
                                                          1. Common Examples
                                                          2. X-Linked Recessive
                                                            1. Inheritance Pattern
                                                              1. Male vs. Female Risk
                                                                1. Carrier Females
                                                                  1. Common Examples
                                                                  2. X-Linked Dominant
                                                                    1. Inheritance Pattern
                                                                      1. Key Features
                                                                        1. Common Examples
                                                                        2. Y-Linked Inheritance
                                                                          1. Paternal Transmission
                                                                            1. Limited Examples
                                                                          2. Non-Mendelian Inheritance
                                                                            1. Mitochondrial Inheritance
                                                                              1. Maternal Transmission
                                                                                1. Heteroplasmy
                                                                                  1. Clinical Implications
                                                                                  2. Genomic Imprinting
                                                                                    1. Parent-of-Origin Effects
                                                                                      1. Imprinting Disorders
                                                                                        1. Molecular Mechanisms
                                                                                        2. Uniparental Disomy
                                                                                          1. Mechanisms of Origin
                                                                                            1. Clinical Consequences
                                                                                              1. Detection Methods
                                                                                              2. Mosaicism
                                                                                                1. Somatic Mosaicism
                                                                                                  1. Germline Mosaicism
                                                                                                    1. Clinical Implications
                                                                                                  2. Complex Inheritance
                                                                                                    1. Multifactorial Inheritance
                                                                                                      1. Polygenic Traits
                                                                                                        1. Threshold Effects
                                                                                                          1. Heritability
                                                                                                          2. Gene-Environment Interactions
                                                                                                            1. Environmental Factors
                                                                                                              1. Penetrance Modifiers
                                                                                                              2. Epistasis
                                                                                                                1. Gene-Gene Interactions
                                                                                                                  1. Modifier Genes
                                                                                                              3. Cytogenetics
                                                                                                                1. Chromosome Structure and Analysis
                                                                                                                  1. Chromosome Preparation
                                                                                                                    1. Banding Techniques
                                                                                                                      1. G-banding
                                                                                                                        1. Q-banding
                                                                                                                          1. R-banding
                                                                                                                          2. Karyotype Analysis
                                                                                                                            1. Normal Karyotype
                                                                                                                              1. Nomenclature System
                                                                                                                            2. Numerical Abnormalities
                                                                                                                              1. Aneuploidy
                                                                                                                                1. Nondisjunction Mechanisms
                                                                                                                                  1. Maternal Age Effect
                                                                                                                                  2. Trisomy
                                                                                                                                    1. Autosomal Trisomies
                                                                                                                                      1. Sex Chromosome Trisomies
                                                                                                                                        1. Clinical Features
                                                                                                                                        2. Monosomy
                                                                                                                                          1. Autosomal Monosomy
                                                                                                                                            1. Turner Syndrome
                                                                                                                                            2. Polyploidy
                                                                                                                                              1. Triploidy
                                                                                                                                                1. Tetraploidy
                                                                                                                                              2. Structural Abnormalities
                                                                                                                                                1. Deletions
                                                                                                                                                  1. Terminal Deletions
                                                                                                                                                    1. Interstitial Deletions
                                                                                                                                                      1. Microdeletions
                                                                                                                                                      2. Duplications
                                                                                                                                                        1. Tandem Duplications
                                                                                                                                                          1. Inverted Duplications
                                                                                                                                                          2. Inversions
                                                                                                                                                            1. Paracentric Inversions
                                                                                                                                                              1. Pericentric Inversions
                                                                                                                                                                1. Reproductive Risks
                                                                                                                                                                2. Translocations
                                                                                                                                                                  1. Reciprocal Translocations
                                                                                                                                                                    1. Robertsonian Translocations
                                                                                                                                                                      1. Reproductive Consequences
                                                                                                                                                                      2. Ring Chromosomes
                                                                                                                                                                        1. Formation Mechanisms
                                                                                                                                                                          1. Clinical Impact
                                                                                                                                                                          2. Marker Chromosomes
                                                                                                                                                                            1. Identification
                                                                                                                                                                              1. Clinical Significance
                                                                                                                                                                          3. Molecular Genetics
                                                                                                                                                                            1. Types of Genetic Variation
                                                                                                                                                                              1. Single Nucleotide Variants
                                                                                                                                                                                1. Synonymous Variants
                                                                                                                                                                                  1. Missense Variants
                                                                                                                                                                                    1. Nonsense Variants
                                                                                                                                                                                    2. Insertions and Deletions
                                                                                                                                                                                      1. Small Indels
                                                                                                                                                                                        1. Large Deletions
                                                                                                                                                                                          1. Frameshift Effects
                                                                                                                                                                                          2. Copy Number Variations
                                                                                                                                                                                            1. Duplications
                                                                                                                                                                                              1. Deletions
                                                                                                                                                                                                1. Clinical Significance
                                                                                                                                                                                                2. Structural Variants
                                                                                                                                                                                                  1. Inversions
                                                                                                                                                                                                    1. Translocations
                                                                                                                                                                                                      1. Complex Rearrangements
                                                                                                                                                                                                    2. Mutation Mechanisms
                                                                                                                                                                                                      1. Point Mutations
                                                                                                                                                                                                        1. Transition Mutations
                                                                                                                                                                                                          1. Transversion Mutations
                                                                                                                                                                                                          2. Repeat Expansions
                                                                                                                                                                                                            1. Trinucleotide Repeats
                                                                                                                                                                                                              1. Anticipation
                                                                                                                                                                                                              2. Splice Site Mutations
                                                                                                                                                                                                                1. Donor Sites
                                                                                                                                                                                                                  1. Acceptor Sites
                                                                                                                                                                                                                    1. Splicing Effects
                                                                                                                                                                                                                  2. Genotype-Phenotype Relationships
                                                                                                                                                                                                                    1. Penetrance
                                                                                                                                                                                                                      1. Complete Penetrance
                                                                                                                                                                                                                        1. Reduced Penetrance
                                                                                                                                                                                                                        2. Expressivity
                                                                                                                                                                                                                          1. Variable Expressivity
                                                                                                                                                                                                                            1. Factors Affecting Expression
                                                                                                                                                                                                                            2. Allelic Heterogeneity
                                                                                                                                                                                                                              1. Multiple Mutations
                                                                                                                                                                                                                                1. Phenotypic Spectrum
                                                                                                                                                                                                                                2. Locus Heterogeneity
                                                                                                                                                                                                                                  1. Multiple Genes
                                                                                                                                                                                                                                    1. Similar Phenotypes
                                                                                                                                                                                                                                3. Population Genetics
                                                                                                                                                                                                                                  1. Hardy-Weinberg Equilibrium
                                                                                                                                                                                                                                    1. Assumptions
                                                                                                                                                                                                                                      1. Calculations
                                                                                                                                                                                                                                        1. Applications in Counseling
                                                                                                                                                                                                                                        2. Factors Affecting Allele Frequencies
                                                                                                                                                                                                                                          1. Genetic Drift
                                                                                                                                                                                                                                            1. Random Sampling
                                                                                                                                                                                                                                              1. Population Size Effects
                                                                                                                                                                                                                                              2. Founder Effects
                                                                                                                                                                                                                                                1. Population Bottlenecks
                                                                                                                                                                                                                                                  1. Isolated Populations
                                                                                                                                                                                                                                                  2. Gene Flow
                                                                                                                                                                                                                                                    1. Migration Effects
                                                                                                                                                                                                                                                      1. Admixture
                                                                                                                                                                                                                                                      2. Selection
                                                                                                                                                                                                                                                        1. Natural Selection
                                                                                                                                                                                                                                                          1. Reproductive Fitness
                                                                                                                                                                                                                                                        2. Population-Specific Variations
                                                                                                                                                                                                                                                          1. Ethnic Differences
                                                                                                                                                                                                                                                            1. Geographic Variations
                                                                                                                                                                                                                                                              1. Founder Mutations
                                                                                                                                                                                                                                                              2. Carrier Frequencies
                                                                                                                                                                                                                                                                1. Population Screening
                                                                                                                                                                                                                                                                  1. Risk Assessment
                                                                                                                                                                                                                                                                    1. Consanguinity Effects
                                                                                                                                                                                                                                                                  2. Genetic Testing Technologies
                                                                                                                                                                                                                                                                    1. Cytogenetic Testing
                                                                                                                                                                                                                                                                      1. Conventional Karyotyping
                                                                                                                                                                                                                                                                        1. Indications
                                                                                                                                                                                                                                                                          1. Limitations
                                                                                                                                                                                                                                                                            1. Resolution
                                                                                                                                                                                                                                                                            2. Fluorescence In Situ Hybridization
                                                                                                                                                                                                                                                                              1. Probe Types
                                                                                                                                                                                                                                                                                1. Interpretation
                                                                                                                                                                                                                                                                                2. Chromosomal Microarray Analysis
                                                                                                                                                                                                                                                                                  1. Array CGH
                                                                                                                                                                                                                                                                                    1. SNP Arrays
                                                                                                                                                                                                                                                                                      1. Copy Number Detection
                                                                                                                                                                                                                                                                                    2. Molecular Testing
                                                                                                                                                                                                                                                                                      1. PCR-Based Methods
                                                                                                                                                                                                                                                                                        1. Amplification Strategies
                                                                                                                                                                                                                                                                                          1. Mutation Detection
                                                                                                                                                                                                                                                                                          2. Sanger Sequencing
                                                                                                                                                                                                                                                                                            1. Methodology
                                                                                                                                                                                                                                                                                              1. Limitations
                                                                                                                                                                                                                                                                                              2. Next-Generation Sequencing
                                                                                                                                                                                                                                                                                                1. Platforms
                                                                                                                                                                                                                                                                                                  1. Targeted Panels
                                                                                                                                                                                                                                                                                                    1. Whole Exome Sequencing
                                                                                                                                                                                                                                                                                                      1. Whole Genome Sequencing
                                                                                                                                                                                                                                                                                                    2. Specialized Testing Methods
                                                                                                                                                                                                                                                                                                      1. Methylation Analysis
                                                                                                                                                                                                                                                                                                        1. Imprinting Disorders
                                                                                                                                                                                                                                                                                                          1. Epigenetic Modifications
                                                                                                                                                                                                                                                                                                          2. Repeat Expansion Testing
                                                                                                                                                                                                                                                                                                            1. Southern Blot
                                                                                                                                                                                                                                                                                                              1. PCR Methods
                                                                                                                                                                                                                                                                                                              2. Mitochondrial DNA Testing
                                                                                                                                                                                                                                                                                                                1. Point Mutations
                                                                                                                                                                                                                                                                                                                  1. Large Deletions

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                                                                                                                                                                                                                                                                                                            1. Foundations of Genetic Counseling

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                                                                                                                                                                                                                                                                                                            3. The Genetic Counseling Process