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Pedigrees definitions

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  • Pedigree
    A diagram mapping family relationships and traits, used to analyze inheritance patterns of genetic conditions.
  • Propositus
    The first family member seeking genetic analysis, serving as the starting point for pedigree investigation.
  • Carrier
    An individual with one mutant allele for a recessive trait, typically unaffected but able to pass the allele to offspring.
  • Autosomal Recessive Disorder
    A condition appearing in offspring of unaffected parents, affecting both sexes equally and requiring two mutant alleles.
  • Autosomal Dominant Disorder
    A rare condition present in every generation, affecting both sexes equally, with only one mutant allele needed for expression.
  • Autosomal Polymorphism
    A common trait with two or more phenotypic forms, inherited in a Mendelian manner, not considered a disease.
  • Sex-linked Inheritance
    A pattern where a trait is associated with genes on sex chromosomes, often showing unequal distribution between sexes.
  • X-linked Recessive Disorder
    A condition more frequent in males, as only one mutant X is needed, with affected males rarely passing it to offspring.
  • X-linked Dominant Disorder
    A condition seen in every generation, with affected males passing it to all daughters but not sons.
  • Y-linked Disorder
    A rare condition transmitted only through males, as only males inherit the Y chromosome.
  • Phenotype
    The observable trait or condition resulting from genetic makeup, as depicted in pedigree analysis.
  • Mating
    A union between two individuals in a pedigree, represented by a horizontal line connecting them.
  • Inheritance Pattern
    The mode by which a trait or disorder is transmitted through generations, determined by pedigree analysis.
  • Symbol
    A graphical representation in pedigrees indicating sex, affected status, carrier state, or other family roles.
  • Flowchart
    A stepwise guide used to determine the inheritance pattern in a pedigree by answering sequential questions.