autosomal recessive

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Autosomal recessive

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

autosomal recessive

Genetics 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.

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Adams-Stokes syndrome Alport's syndrome Angelman's syndrome ARPKD Bassen-Kornzweig syndrome Bernard-Soulier syndrome Carpenter's syndrome cerebrocostomandibular syndrome cerebrohepatorenal syndrome Chédiak-Higashi syndrome Chinese restaurant syndrome Dubin-Johnson syndrome Ehlers-Danlos syndrome EMG syndrome Fanconi syndrome Hurler's syndrome ichthyosis Jarcho-Levin syndrome Joubert's syndrome			00 Hardcover Medical intelligence unit RC607 Nineteen international researchers contribute 11 chapters reporting the latest findings on ataxia telangiectasia (AT), an incurable, rare autosomal recessive genetic disorder affecting approximately one in 40,000-100,000 people. Molecular mechanisms of ataxia telangiectasia by SciTech Book News Autosomal recessive disorders, in which two genes must mutate in a person to appear, form an overwhelming proportion of genetic disorders in Omani patients, according to the study. Genetic disorders on the rise in the sultanate by The Week (Muscat, Oman) Furthermore, no other nucleotide substitution was present in the expressed allele, ruling out the possibility of an autosomal recessive disease due to the translocation combined with a point mutation. Identification of the gene responsible for a novel form of congenital ... by Brusco, Alfredo / Generations			autoradiograph autoradiography autoreactive autorefraction autoregulation autoreinfection autoreproduction autosensitization autosepticemia autoserous treatment autoserum autosexing autosexual autosite autosmia autosomal Autosomal chromosome Autosomal disease Autosomal dominance autosomal dominant autosomal dominant disorders Autosomal dominant inheritance autosomal dominant polycystic kidney disease Autosomal gene autosomal inheritance autosomal recessive autosomal recessive disorders Autosomal recessive inheritance autosomal-dominant inheritance autosomal-recessive inheritance autosomatognosis autosome autosplenectomy autosuggestion autotetraploid autotomography autotomy autotopagnosia autotoxemia autotoxic autotoxin autotransformer autotransfusion autotransfusion 1 autotransfusion 2 autotransplant autotransplantation autotriploid autotroph autotrophic autovaccination			Autosomal Dominant Macular Degeneration Autosomal Dominant Macular Dystrophy autosomal dominant medullary cystic kidney disease Autosomal Dominant Motor System Degeneration Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant Neurohypophyseal Diabetes Insipidus Autosomal dominant nocturnal frontal lobe epilepsy Autosomal Dominant Non-Syndromal Hearing Impairment Autosomal Dominant Non-Syndromic Hearing Loss Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy and Cataract Autosomal Dominant Partial Epilepsy with Auditory Features Autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease Autosomal Dominant Polycystic Liver Disease Autosomal Dominant Progressive External Ophthalmoplegia Autosomal Dominant Pure Spastic Paraplegia Autosomal Dominant Retinitis Pigmentosa Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia Autosomal Dominant Sensory Ataxia autosomal dominant Stargardt-like disease Autosomal Dominant Striatal Degeneration autosomal dominant vitreoretinochoroidopathy autosomal gene autosomal inheritance autosomal inheritance autosomal inheritance autosomal inheritance autosomal inheritance autosomal recessive Autosomal Recessive Charcot-Marie-Tooth Autosomal Recessive Cone-Rod Dystrophy autosomal recessive defect autosomal recessive disease autosomal recessive disorders Autosomal Recessive Exfoliative Ichthyosis autosomal recessive form of rhizomelic chondrodysplasia punctata autosomal recessive hearing loss Autosomal Recessive Hereditary Spastic Paraplegia Autosomal Recessive Hypercholesterolemia Autosomal recessive inheritance Autosomal Recessive Juvenile Parkinson's Disease Autosomal recessive juvenile parkinsonism Autosomal Recessive Muscular Dystrophy Autosomal Recessive Muscular Dystrophy of Childhood Autosomal Recessive Ocular Albinism Autosomal Recessive Osteopetrosis Autosomal Recessive Persistent Hyperplastic Primary Vitreous Autosomal Recessive Polycystic Disease Autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease Autosomal Recessive Sensorineural Hearing Impairment and Goiter Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Autosomal Recessive Vitamin D Dependency Autosomal Recessively Inherited Ocular Albinism

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