Also found in: Acronyms.
autosomal recessiveadjective Referring to a mode of inheritance of a trait or disorder which is passed from one generation to the next in the face of homozygosity.
In autosomal recessive inheritance, both genes of interest (i.e., one from each parent) on a paired chromosome have the same defect; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4. Men and women are affected equally.
Cystic fibrosis, most forms of mucopolysaccharidosis (except Hunter syndrome), sickle cell anaemia, Tay-Sachs disease, thalassemia.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
autosomal recessiveGenetics Referring to a mode of inheritance, in which the phenotypic expression of a gene of interest requires its presence on both paired chromosomes–ie, a homozygous state; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4; ♂ and ♀ are affected equally. Cf Autosomal dominant, X-linked recessive.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Pert. to or characteristic of an autosomal recessive gene. See: autosomal recessive gene
Medical Dictionary, © 2009 Farlex and Partners
A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25% chance with each pregnancy that their offspring will have the disorder.
Mentioned in: Hemoglobinopathies, Muscular Dystrophy, Polyhydramnios and Oligohydramnios, Porphyrias, Prolonged QT Syndrome, Von Willebrand Disease
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.