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Genetic Disorders definitions

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  • Autosome
    Any chromosome not involved in determining sex, carrying genes for traits inherited equally by males and females.
  • Dominant Allele
    A gene variant that expresses its trait even when only one copy is present in the genotype.
  • Recessive Allele
    A gene variant whose trait is only expressed when two copies are present in the genotype.
  • Homozygous
    A genetic condition where both alleles for a trait are identical, either both dominant or both recessive.
  • Heterozygous
    A genetic condition where two different alleles for a trait are present in the genotype.
  • Pedigree
    A diagram showing inheritance patterns of traits or disorders across multiple generations in a family.
  • Polydactyly
    A condition characterized by the presence of extra fingers or toes, resulting from a dominant allele.
  • Cystic Fibrosis
    A disorder caused by two recessive alleles, leading to thick mucus production and respiratory issues.
  • Hemophilia
    A disorder marked by abnormal blood clotting, often due to a recessive gene on the X chromosome.
  • X Chromosome
    A sex chromosome carrying genes that can cause certain disorders, especially when recessive alleles are present.
  • Carrier
    An individual with one normal and one altered allele for a recessive disorder, showing no symptoms but able to pass it on.
  • Punnett Square
    A grid used to predict the possible genetic outcomes of a cross between two individuals.
  • Red-Green Color Blindness
    A vision disorder caused by a recessive allele on the X chromosome, affecting color perception.
  • Generation Skipping
    A pattern where a genetic disorder appears in alternate generations, typical of recessive inheritance.
  • X-Linked Recessive Disorder
    A condition resulting from a recessive gene on the X chromosome, more common in males due to their single X.