What is the primary genetic pattern for Brachio-oto-renal Syndrome?

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Brachio-oto-renal syndrome is primarily inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene, which can be inherited from either parent, is sufficient to cause the syndrome. Individuals with the condition have a 50% chance of passing the mutation to their offspring with each pregnancy.

This genetic pattern is evident in the way the syndrome manifests within families, as affected individuals often have an affected parent. Such autosomal dominant disorders can also exhibit variable expressivity, meaning that the severity and combination of symptoms, such as hearing loss, renal anomalies, and brachial (limb) defects, may differ between individuals, even within the same family.

Other genetic patterns mentioned, such as autosomal recessive or X-linked inheritance, do not apply to Brachio-oto-renal syndrome. Autosomal recessive conditions typically require both copies of a gene to be mutated to manifest, while X-linked dominant disorders would primarily affect females. Polygenic inheritance involves multiple genes contributing to a trait or condition, which does not succinctly fit the inheritance pattern described for this specific syndrome.

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