Autosomal dominant


Also found in: Acronyms.

autosomal dominant

adjective Referring to a trait or disorder that may be passed from one generation to the next when only one allele is required to pass a genetic defect to the progeny.

Examples
Achondroplasia, Huntington’s disease, Marfan syndrome, neurofibromatosis, osteogenesis imperfecta.

autosomal dominant

Genetics Referring to a mode of inheritance, in which the presence of only one copy of a gene of interest on one of the 22 autosomal–non-sex chromosomes, will result in the phenotypic expression of that gene; the likelihood of expressing an autosomal gene in progeny is 1:2; ♂ and ♀ are affected equally. Cf Autosomal recessive, X-linked recessive.

autosomal dominant

Pert. to or characteristic of an autosomal dominant gene.
See: autosomal dominant gene

Autosomal dominant or autosomal recessive

Refers to the inheritance pattern of a gene on a chromosome other than X or Y. Genes are inherited in pairs—one gene from each parent. However, the inheritance may not be equal, and one gene may overshadow the other in determining the final form of the encoded characteristic. The gene that overshadows the other is called the dominant gene; the overshadowed gene is the recessive one.
References in periodicals archive ?
The different forms of muscular dystrophy can be passed from parent to child by one of three inheritance patterns -- autosomal dominant, autosomal recessive and X-linked recessive.
Marfan's syndrome is an autosomal dominant entity consisting of long, slender, tubular bones, ocular abnormalities and aortic aneurysm.
Autosomal dominant forms of FSGS typically manifest in adulthood, and contain gain-of-function mutations; however, penetrance may be incomplete with variable expression of the disease phenotype.
The pedigree of Family A is shown in [Figure 2]a, and their hereditary mode was in accord with autosomal dominant inheritance.
They were previously described as the May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, yet they all result from autosomal dominant mutations in the cytoskeletal protein MYH9.
Autosomal Dominant Polycystic Kidney Disease with multiple extra renal complications including polycystic liver disease, epigastric hernia and pericardial effusion.
White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Treacher Collins Syndrome (TCS) is a rare, autosomal dominant disorder characterized by hypoplasia of maxillary and mandibular bones, external ear abnormalities, preauricular hair displacements onto the cheeks, coloboma of the lower eyelid and absence of the lower eyelashes and conductive hear loss.
This mechanism of action has clinical proof of concept to delay the progression of the autosomal dominant form of PKD.
They recruited 96 individuals from 35 families with a syndrome of elevated basal serum tryptase levels and multiple symptoms following an autosomal dominant pattern of inheritance.
1 Mode of inheritance: Autosomal dominant Syndrome: Hereditary breast and ovarian cancer

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