autosomal recessive defect

7.7

A genetic condition caused when a child gets two faulty copies of the same gene on a non-sex chromosome

noun
/ˌɔːtəˈsoʊməl rɪˈsɛsɪv dɪˈfɛkt/

Specialized

: defecto autosómico recesivo

Cystic fibrosis is an autosomal recessive defect that affects the lungs and digestive system.

Examples

Sickle cell anemia results from an autosomal recessive defect in the hemoglobin gene.
Both parents must carry the gene for a child to inherit an autosomal recessive defect.
The child was diagnosed with an autosomal recessive defect.
Many families are affected by autosomal recessive defects.
Cystic fibrosis is an autosomal recessive defect that affects the lungs and digestive system.
Sickle cell anemia results from an autosomal recessive defect in the hemoglobin gene.
Both parents must carry the gene for a child to inherit an autosomal recessive defect.

Synonyms

autosomal recessive disease

vsautosomal recessive defect

Specialized

5.4

A disease that appears when a child gets two copies of a faulty gene on a non-sex chromosome

is the phrase that highlights a structural genetic fault rather than illness

Surface Forms

autosomal recessive defect singular

autosomal recessive defects plural

Morphology

autosomal + recessive + defect

The phrase is fully compositional: 'autosomal' specifies non-sex chromosomes, 'recessive' signals a trait expressed only when two copies are present, and 'defect' denotes a flaw, so together they describe a genetic flaw caused by a recessive gene on an autosome. Although the terms are technical, a learner who knows the constituent meanings can directly derive the MWE's meaning.

Etymology

Autosomal recessive defect explains how a gene problem works: autosomal means the gene is on a chromosome that is not a sex chromosome, recessive means the faulty version stays 'hidden' unless someone has two copies, and defect means a fault in the gene. So a child must inherit the same hidden faulty gene from both parents for the disorder to appear.