Autosomal Recessive Defect (Noun)

Meaning

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

Classification

Nouns denoting natural processes.

Examples

• The geneticist explained that cystic fibrosis is an autosomal recessive defect that affects the respiratory and digestive systems.
• The fetus was diagnosed with an autosomal recessive defect during prenatal testing, which led the parents to make difficult decisions about the pregnancy.
• Sickle cell anemia is an autosomal recessive defect caused by a single mutation in the hemoglobin gene, resulting in abnormally shaped red blood cells.
• The couple was advised to undergo genetic counseling after discovering they were both carriers of the autosomal recessive defect that caused their child's Tay-Sachs disease.
• The researchers identified a new autosomal recessive defect responsible for a rare form of muscular dystrophy that had gone undiagnosed in several families for generations.

Synonyms

• Autosomal Recessive Disease

Hypernyms

• Inherited Disorder
• Hereditary Disease
• Inherited Disease
• Genetic Disease
• Genetic Abnormality
• Genetic Defect
• Congenital Disease
• Hereditary Condition

Hyponyms

• Limb-girdle Muscular Dystrophy
• Niemann-Pick Disease
• Tyrosinemia
• Tay-Sachs Disease
• Werdnig-Hoffman Disease
• Sachs Disease
• Thrombasthenia
• Infantile Amaurotic Idiocy