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Topic: Autosomal recessive

Related Topics

Autosomal dominant

Gene

Waardenburg syndrome

VWD

Propionic acidemia

Haemophilia

Sickle cell anemia

Persistent mullerian duct syndrome

Heterochromia Iridis

PKU

Protein

Enzyme

Lethargy

Hyperammonemia

Metabolism

	Autosomal recessive verses autosomal dominant retinitis pigmentosa
		Nonetheless, the recessive trait for retinitis pigmentosa, while not expressed due to the presence of a 'normal' gene, is still part of the genome and may be passed to the next generation.
		Autosomal recessive RP is the most probable explanation for seemingly isolated incidences of retinitis pigmentosa.
		In autosomal dominant retintis pigmentosa, one of the chromosome pairs has been altered, but unlike autosomal recessive RP this gene is all that is required for the expression of retinitis pigmentosa gene.
	www.geocities.com /retinitis_pigmentosa_rp/r_pigmentosa_autorecess.html (972 words)

	Autosomal dominant Summary
		Autosomal dominant inheritance occurs when an allele of one the chromosomes of a homologous pair (i.e., derived from one parent) of autosomal chromosomes is able to express itself regardless of what allele is present on the homologous chromosome.
		Autosomal recessive inheritance occurs when an allele of one the chromosomes of a homologous pair (i.e., derived from one parent) of autosomal chromosomes is incapable of expressing the trait or disease it codes for unless another copy of the recessive gene is present on the homologous chromosome.
		An autosomal dominant gene is one that occurs on an autosomal (non-sex determining) chromosome.
	www.bookrags.com /Autosomal_dominant (1158 words)

	Autosomal Recessive Congenital Ichthyosis
		Autosomal recessive congenital ichthyosis is inherited in an autosomal recessive manner.
		Autosomal recessive congenital ichthyosis is characterizd by hyperkeratosis (thickened stratum corneum, the uppermost layer of the epidermis) with or without parakeratosis with an underlying acanthosis.
		The disease is caused by mutations in the
	www.geneclinics.org /profiles/li-ar/details.html (4213 words)

	Autosomal Recessive Agammaglobulinemia (Site not responding. Last check: 2007-10-14)
		Autosomal recessive agammaglobulinemia is a term used to describe a group of inherited disorders of the immune system that affect males and females equally.
		The diagnosis of autosomal recessive agammaglobulinemia is suspected in patients who have recurrent infections, low serum immunoglobulin levels (IgG, IgA, IgM), few to absent CD19+ B cells in the peripheral blood (<1 percent) and normal Btk (the gene that is abnormal in the X-linked form of agammaglobulinemia).
		Autosomal recessive agammaglobulinemia occurs if two abnormal genes, one from each parent, are present in the patient.
	www.stjude.org /disease-summaries/0,2557,449_2164_6533,00.html (652 words)

	Autosomal Recessive - Health Encyclopedia
		Autosomal diseases are inherited through the non-sex chromosomes, (pairs 1 through 22).
		Recessive inheritance occurs when BOTH genes of a pair must be abnormal to produce disease.
		For an autosomal recessive disorder: When both parents are carriers of an autosomal recessive trait, there is a 25% chance of a child inheriting abnormal genes from both parents, and therefore of developing the disease.
	www.nbc5.com /encyclopedia/6862711/detail.html (694 words)

	Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease - My Child Has - Children's Hospital Boston
		Autosomal recessive inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22).
		"Recessive" means that two copies of the gene are necessary to have the trait, one inherited from the mother, and one from the father.
		Once parents have had a child with a recessive trait or disease, there is a one out of four, or 25 percent chance, with each subsequent pregnancy, for another child to be born with the same trait or disorder.
	www.childrenshospital.org /az/Site616/mainpageS616P0.html (1004 words)

	Genetics and Cancer - Autosomal Recessive Inherita (Site not responding. Last check: 2007-10-14)
		Autosomal recessive inheritance means that the gene carrying the mutation is located on one of the autosomes (chromosome pairs 1 through 22).
		Once parents have had a child with a recessive disease, there is a one out of four, or 25 percent chance, with each subsequent pregnancy, for another child to be born with the same disorder.
		The birth of a child with a recessive condition is often a total surprise to a family, since in most cases, there is no previous family history of the condition.
	www.readinghospital.org /content/gStone.aspx?pageid=P07123 (443 words)

	autosomal recessive inheritance - General Practice Notebook (Site not responding. Last check: 2007-10-14)
		Autosomal recessive inheritance is characterised by a disease trait only appearing in the homozygote carrier.
		Autosomal recessive diseases affect each sex to equal extents, and when acquired they always present in a stereotyped manner with little variability of expression.
		A minority of autosomal recessive traits are due to inborn errors of metabolism with defective enzymes.
	www.gpnotebook.co.uk /cache/-1308229598.htm (271 words)

	CIDD- Introduction
		As long as the frequency of a gene for a recessive disorder remains low in the population, the particular gene may be passed along for many generations before by chance 2 carriers are mated and affected individuals are born.
		Because the recessive gene is carried in the population in outwardly normal animals, it is very difficult to eradicate these traits.
		So if a mother who is a carrier for a harmful recessive gene (Xx) passes the recessive gene (x) to her daughter, the daughter will be an unaffected carrier, but her sons who receive that gene will be affected.
	www.upei.ca /~cidd/howare.htm (1647 words)

	Polycystic Kidney Disease (Site not responding. Last check: 2007-10-14)
		The phrase "autosomal dominant" means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child (see Genetic Diseases).
		In some rare cases, the cause of autosomal dominant PKD occurs spontaneously in the child soon after conception—in these cases the parents are not the source of this disease.
		Autosomal recessive PKD is caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD.
	kidney.niddk.nih.gov /kudiseases/pubs/polycystic (2516 words)

	Autosomal Recessive - Health Centers
		An abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from each parent is required to cause the disease.
		The inheritance of genetic diseases, abnormalities, or traits is described by both the type of chromosome on which the abnormal gene resides (autosomal or sex chromosome), and by whether the gene itself is dominant or recessive.
		The abnormal gene dominates the outcome of the gene pair.
	www.thebostonchannel.com /encyclopedia/6862711/detail.html (719 words)

	autosomal recessive polycystic kidney disease information. (Site not responding. Last check: 2007-10-14)
		Autosomal Recessive Polycystic Kidney Disease - Autosomal recessive polycystic kidney disease (ARPKD) is the most common heritable cystic renal disease..
		Autosomal recessive polycystic kidney disease (ARPKD) is characterized by cystic degeneration of the kidneys and progressive fibrosis of the liver.
		Autosomal recessive (infantile) polycystic kidney disease demonstrated by..
	www.lawnet.com.au /a/autosomal_recessive_polycystic_kidney_disease.html (117 words)

	Autosomal recessive disease
		Autosomal recessive diseases are genetic diseases that are passed to a child through both parents' chromosomes.
		In an autosomal recessive disease, both chromosomes in a pair must have a defective gene for the person to have the disease.
		Autosomal recessive diseases include Tay-Sachs disease, cystic fibrosis, sickle cell anemia, autosomal recessive polycystic kidney disease (ARPKD), and phenylketonuria (PKU).
	www.webmd.com /hw/health_guide_atoz/ug1373.asp (275 words)

	Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease - Lucile Packard Children's Hospital
		A person who has only one recessive gene is said to be a "carrier" for the trait or disease, but they do not have any health problems from "carrying" one copy of the gene.
		As mentioned above, a person who "carries" one copy of an autosomal recessive gene is usually not aware they carry the gene, because they do not show any signs of the disease or condition.
		Usually a person does not know they carry a recessive gene unless they have the disease in their family, or if they have had an affected child.
	www.lpch.org /DiseaseHealthInfo/HealthLibrary/genetics/recessive.html (1012 words)

	Autosomal Recessive Polycystic Kidney Disease - WrongDiagnosis.com
		A rare genetic disorder with autosomal recessive inheritance characterized by multiple cysts in both kidneys and associated hepatic lesions.
		Autosomal Recessive Polycystic Kidney Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		Prevalence and Incidence of Autosomal Recessive Polycystic Kidney Disease
	www.wrongdiagnosis.com /a/autosomal_recessive_polycystic_kidney_disease/intro.htm (722 words)

	Autosomal Recessive Genetic Diseases - WrongDiagnosis.com
		The non-sex chromosomes 1..22 are called "autosomes" and the resulting conditions called autosomal genetic diseases.
		Recessive diseases are diseases where both copies of a gene must be damaged or mutated.
		Prevalence and Incidence of Autosomal Recessive Genetic Diseases
	www.wrongdiagnosis.com /a/autosomal_recessive_genetic_diseases/intro.htm (427 words)

	[No title]
		The typical presentation of an individual with an autosomal recessive disorder is a child where both parents are clinically asymptomatic and usually unaware of any familial disorder in their families.
		Factors that influence the occurrence of autosomal recessive conditions Statistical considerations Because the occurrence of a recessive autosomal disorder depends upon two occurrences of bad luck, the frequency in a population of a given disorder is the square of the carrier frequency, i.e.
		This autosomal recessive disorder is due most often to a defect in the arylsulfatase A gene on chromosome 22q13, which encodes a lysosomal enzyme that degrades a specific class of lipids, predominantly in the cerebral white matter.
	cmmg.biosci.wayne.edu /jgarbern/AR2002.doc (4887 words)

	What Is autosomal recessive PKD? - NYU Medical Center, NYU Hospital, New York, NY
		Autosomal recessive PKD is caused by a particular geneticflaw that is different from the genetic flaw that causes autosomaldominant PKD.
		The symptoms of autosomal recessive PKD can begin before birth,so it is often called "infantile PKD." Children born with autosomalrecessive PKD usually develop kidney failure within a few years.Severity of the disease varies.
		Becausekidney function is crucial for early physical development, childrenwith autosomal recessive PKD are usually smaller than averagesize.
	www.med.nyu.edu /patientcare/library/article.html?ChunkIID=21086 (563 words)

	MedlinePlus Medical Encyclopedia: Autosomal dominant
		A single, abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from either parent can cause certain diseases.
		The inheritance of genetic diseases, abnormalities, or traits is described by both the type of chromosome on which the abnormal gene resides (autosomal or sex chromosome), and by whether the trait itself is dominant or recessive.
		For an autosomal dominant disorder: If one parent has an abnormal gene and the other parent a normal gene, there is a 50% chance each child will inherit the abnormal gene, and therefore the dominant trait.
	www.nlm.nih.gov /medlineplus/ency/article/002049.htm (541 words)

	Human Genetics - Mendelian Inheritance 4
		For most autosomal recessive diseases, but not all, the heterozygote cannot be distinguished from the normal homozygote.
		Since these relatively rare autosomal recessive diseases would have disease frequencies of 1/10,000 live births or less, the carrier frequency in the general population would not exceed 1/50.
		In rare autosomal recessive diseases, when consanguinity is involved, those individuals in the direct line of descent within the family are considered to be carriers and those individuals from outside the family are considered homozygous normal unless there is evidence to the contrary.
	www.uic.edu /classes/bms/bms655/lesson5.html (1331 words)

	Autosomal recessive definition - Medical Dictionary definitions of popular medical terms
		Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent.
		The gene is on an autosome, a nonsex chromosome.
		Cystic fibrosis (CF) is an example of an autosomal recessive disorder.
	www.medterms.com /script/main/art.asp?articlekey=15971 (295 words)

	Beta thalassemia - Genetics Home Reference
		Beta thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.
		Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
		In a small percentage of families, the HBB mutation is inherited in an autosomal dominant manner.
	ghr.nlm.nih.gov /condition=betathalassemia (689 words)

	eMedicine - Autosomal Recessive Polycystic Kidney Disease : Article Excerpt by: Ben Y Young, MD (Site not responding. Last check: 2007-10-14)
		Background: Autosomal recessive polycystic kidney disease (ARPKD) is the most common heritable cystic renal disease occurring in infancy and childhood.
		It is distinct from autosomal dominant polycystic kidney disease (ADPKD), which tends to occur in an older population.
		Pathophysiology: ARPKD follows an autosomal recessive inheritance pattern, with siblings of either sex having a 25% chance of developing disease while the parents are unaffected.
	www.emedicine.com /radio/byname/autosomal-recessive-polycystic-kidney-disease.htm (609 words)

	eMedicine - Autosomal Recessive Polycystic Kidney Disease : Article by Ben Y Young, MD (Site not responding. Last check: 2007-10-14)
		Herman TE, Siegel MJ: Pyramidal hyperechogenicity in autosomal recessive polycystic kidney disease resembling medullary nephrocalcinosis.
		Premkumar A, Berdon WE, Levy J, et al: The emergence of hepatic fibrosis and portal hypertension in infants and children with autosomal recessive polycystic kidney disease.
		Tracey KP, Jen H, Metcalfe JB, McEwan AJ: Autosomal recessive (infantile) polycystic kidney disease demonstrated by Tc-99m DMSA renal imaging.
	www.emedicine.com /radio/topic69.htm (4086 words)

	What Is autosomal recessive PKD?
		Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby.
		Ultrasound imaging of the fetus or newborn baby reveals cysts in the kidneys but does not distinguish between the cysts of auto-somal recessive and autosomal dominant PKD.
		In response to kidney failure, autosomal recessive PKD patients must receive dialysis or transplantation.
	www.upmc.com /HealthManagement/ManagingYourHealth/HealthReference/Diseases/InFull/?chunkiid=21086 (634 words)

	AllRefer Health - Autosomal Recessive: Description (Genetics - Autosomal Recessive, Inheritance - Autosomal Recessive)
		AllRefer Health - Autosomal Recessive: Description (Genetics - Autosomal Recessive, Inheritance - Autosomal Recessive)
		You are here : AllRefer.com > Health > Special Topic > Autosomal Recessive: Description
		BOTH parents must be carriers in order for a child to have symptoms of the disease; a child who inherits the gene from one parent will be a carrier.
	health.allrefer.com /health/autosomal-recessive-info.html (540 words)

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