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autosomal dominant disorder

autosomal dominant disorder

1 6.5
A disease that happens when one copy of a gene on a non-sex chromosome changes
  • noun
  • /ˌɔːtəˈsoʊməl ˈdɑːmɪnənt dɪsˈɔːrdər/
  • Specialized
translation icon : trastorno autosómico dominante
  • However, achondroplasia is an autosomal dominant disorder, and one would expect to see other children affected in the family.

Examples

  • Isolated primary VUR is an autosomal dominant disorder with incomplete penetrance and variable expression: the genetic defect or defects are unknown.

    Academic text (2000)
  • Thus, the offspring of a woman with a single gene/autosomal dominant disorder who becomes pregnant by a man with the same single gene/autosomal dominant disorder will inherit the gene and express the disease.

    Academic text (2005)
  • It's a genetic autosomal dominant disorder that results in uncontrollable sneezing in response to numerous stimuli such as looking at bright lights.

  • Huntington's disease is an autosomal dominant disorder with high penetrance characterized by progressive chorea and dementia.

    Academic text (2004)
  • Thus, the offspring of a woman with a single gene/autosomal dominant disorder who becomes pregnant by a man with the same single gene/autosomal dominant disorder will inherit the gene and express the disease.

    Academic text (2005)
  • Achondroplasia is an autosomal dominant disorder that affects bone growth and is visible at birth.

  • Huntington's disease, an autosomal dominant disorder, leads to progressive loss of motor control and cognition.

  • If one parent has an autosomal dominant disorder, there is a 50 percent chance their children will inherit it.

Synonyms

autosomal dominant disease
vsautosomal dominant disorder
  • Specialized
6.5

A genetic disease from a changed gene on a non-sex chromosome where one bad copy causes illness

is identical in meaning but prefers an alternative medical noun form

Surface Forms

Morphology

autosomal + dominant + disorder

The phrase is transparently built from its parts: 'autosomal' (relating to non‑sex chromosomes) + 'dominant' (expressed when a single copy is present) + 'disorder' (a medical condition). A learner who knows these constituent meanings can infer it denotes a medical condition caused by a dominant gene on an autosome; although technical, the modifier+noun composition is regular and compositional.

Etymology

The term autosomal dominant disorder breaks into autosomal (a gene on a chromosome not related to being male or female) and dominant (a gene where one bad copy is enough to 'show' the condition). So, if a parent has this kind of gene, each child usually has about a 50% chance to inherit the disorder.