Autosomal dominant inheritance

Autosomal dominant inheritance is a pattern in which one altered copy of an autosomal gene can cause a condition. It often produces a 50% chance of transmission from an affected heterozygous parent to each child.

Allele: One of two or more alternative forms of a gene at a particular genomic location. An altered allele is the inherited unit that can cause a dominant condition.
Autosome: A chromosome that is not a sex chromosome. The term specifies that the relevant gene lies on a non-sex chromosome.
Autosomal recessive inheritance: A pattern in which a condition typically appears when both copies of an autosomal gene are altered. It usually requires two altered copies, unlike the one-copy threshold of dominant inheritance.
Huntington's disease: A progressive neurodegenerative disorder caused by a pathogenic HTT gene expansion. It is a well-known adult-onset condition with autosomal dominant inheritance.
Heterozygosity: The condition of having different alleles at corresponding gene locations on paired chromosomes. Affected individuals often carry one altered allele and one typical allele.
Genotype: The genetic constitution of an organism at one or more loci. Genotypes distinguish one altered copy from two altered copies of a gene.
X-linked dominant inheritance: A pattern in which a variant on the X chromosome can cause a condition with one altered copy. Its transmission depends on sex-chromosome biology rather than an autosomal locus.
Marfan syndrome: A connective-tissue disorder commonly caused by pathogenic variants in FBN1. It illustrates variable features and cardiovascular risks in a dominant condition.
Penetrance: The proportion of people with a particular genotype who show its associated phenotype. An inherited dominant variant may not produce recognizable signs in every carrier.
Phenotype: Observable characteristics of an organism, produced by genetic and environmental influences. Dominance describes how alleles relate in the resulting phenotype.

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