autosomal recessive disease

Thân thiện

A child is diagnosed with an autosomal recessive disease.

Definition

1. Noun:
   • A genetic disorder: An "autosomal recessive disease" is a medical condition that occurs only when an individual inherits two copies of a mutated gene, one from each parent. Both copies must be the recessive form of the gene for the disease to manifest. The gene in question is located on an autosome, which is any chromosome that is not a sex chromosome (X or Y).

Usage Examples

• Noun:
  • Cystic fibrosis is a well-known autosomal recessive disease.
  • For a child to be born with an autosomal recessive disease, both parents must be carriers of the recessive gene.

Advanced Usage

• In genetic counseling: The term is used to explain inheritance patterns and risks to families.
  • The genetic counselor explained that the condition was an autosomal recessive disease, meaning there was a 25% chance with each pregnancy that the child would be affected if both parents were carriers.

Variants and Related Words

• Autosomal recessive disorder: A synonymous term often used interchangeably with "autosomal recessive disease."
• Autosomal recessive inheritance: Refers to the pattern of inheritance itself, rather than the specific disease.
• Recessive allele: The form of a gene that must be present in two copies to cause a recessive disease.

Synonyms

• Recessive genetic disorder
• Autosomal recessive condition

Related Phrases

• Carrier of a recessive gene: An individual who has one copy of a recessive mutant gene and one normal gene, and therefore does not show symptoms of the disease.
  • Although healthy, both parents were carriers for the autosomal recessive disease.
• Autosomal dominant disease: A contrasting term for a disorder caused by a single copy of a dominant mutant gene on an autosome.

Học thuật

Noun

1. a disease caused by the presence of two recessive mutant genes on an autosome

Từ đồng nghĩa

• autosomal recessive defect