Autosomal dominant inheritance

Autosomal dominant inheritance

A pattern of inheritance in which a trait will be expressed if the gene is inherited from either parent.
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
De novo mutations along with autosomal dominant inheritance have recently been documented as the major cause of IDs.
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia and sensorineural deafness: report of a pedigree with autosomal dominant inheritance. J Med Genet 1987; 24:602-8.
(3) More recently, a group of researchers from Denmark reported a three generation family with recurrent BP with a pedigree pattern suggestive of autosomal dominant inheritance with near full penetrance.
Three familial cold syndromes exist: familial delayed CU, familial cold autoinflammatory syndrome (FCAS), and familial atypical CU (FACU).[1] Here, we report three Chinese pedigrees of FCU with an autosomal dominant inheritance pattern [Figure 1]a.{Figure 1}
CFEOM 1A is the most common form of CFEO-Ml with autosomal dominant inheritance pattern that is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis (12).
If patients with bi-directional ventricular tachycardia triggered by exercise or patients with sudden cardiac arrest display an autosomal dominant inheritance, sequence analysis in the RyR2 gene is recommended.
Sporadic CSVD is related to aging and hypertension, while the familial hereditary CSVD frequently starts early and can be inherited in an autosomal dominant inheritance manner (3-5).
The differential diagnosis of renal cysts with autosomal dominant inheritance pattern include ADPKD, tuberous sclerosis, medullary cystic kidney disease and Von Hippel-Lindau disease.
PHP type 1a is due to a heterozygous loss of function of the alpha subunit of a G protein (Gs[alpha]), due to a GNAS mutation on the maternal allele of the chromosome 20q13.3, with autosomal dominant inheritance [3,4].
The genetic defect segregating in this family shows autosomal dominant inheritance. The absence of vestibular and retinal defects and less severe hearing loss is consistent with the phenotype of a recently reported Chinese family [15].
NF1 often follows an autosomal dominant inheritance pattern, although up to 50% of patients with NF1 arise de novo from spontaneous mutations.
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance and usually develops before 25 years.

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