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 ?
Sonographic assessment of the severity and progression of autosomal dominant polycystic kidney disease: The Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP).
Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease.
Recall that the road to the use of statins in many ways started with familial hypercholesterolemia, an autosomal dominant disease.
This autosomal dominant, gene-related syndrome can be associated with macrocephaly; attention-deficit/ hyperactivity disorder and/or other learning disabilities; lipomas; or vascular anomalies, but they do not have the neurofibromas or tumors of NF1.
HSAN can be transmitted as an autosomal dominant (AD) or autosomal recessive (AR) trait.
A CADASIL (an acronym for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited cerebrovascular disease characterized by the thickening of blood vessel walls that blocks circulation to the brain and causes degeneration and bleeding of small blood vessels in the white matter of the brain.
But genetic testing has the limitations of only detecting the autosomal dominant form of PKD and not other forms of cystic kidney disease.
Early-onset type 2 diabetes is characterized by insulin resistance, obesity, the onset of diabetes before age 40 years, and the occasional presence of autosomal dominant inheritance (1, 2).
It accounts for approximately 15% of cases of OP.1 The third group, with an incidence rate of 1/20 000-500 000 births and autosomal dominant inheritance, is divided into type I and type II OP.
Consequently, transmission appears to be autosomal dominant because recombination occurs, but it is more correctly termed pseudo-autosomal dominant.
In most instances, VWD is autosomal dominant, and VIII and IX deficiency are sex-linked recessives that appear in the "hemizygous" state.

Full browser ?