genetic abnormality


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Related to genetic abnormality: genetic disorder
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Noun1.genetic abnormality - a disease or disorder that is inherited geneticallygenetic abnormality - a disease or disorder that is inherited genetically
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
polygenic disease, polygenic disorder - an inherited disease controlled by several genes at once
achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
congenital megacolon, Hirschsprung's disease - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
hyperbetalipoproteinemia - a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
ichthyosis - any of several congenital diseases in which the skin is dry and scaly like a fish
branched chain ketoaciduria, maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
McArdle's disease - an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
oligodactyly - congenital condition in which some fingers or toes are missing
oligodontia - congenital condition in which some of the teeth are missing
otosclerosis - hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
congenital pancytopenia, Fanconi's anaemia, Fanconi's anemia - a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
juvenile amaurotic idiocy, Spielmeyer-Vogt disease - a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
congenital afibrinogenemia - a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
Albers-Schonberg disease, marble bones disease, osteopetrosis - an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
nevoid elephantiasis, pachyderma - thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
dwarfism, nanism - a genetic abnormality resulting in short stature
lactase deficiency, lactose intolerance, milk intolerance - congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
hepatolenticular degeneration, Wilson's disease - a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
References in periodicals archive ?
SCD is an inherited genetic abnormality of the haemoglobin.
The piglet may have suffered from genetic abnormality as it developed inside its mother's womb, according to veterinarians.
We think a genetic abnormality may be responsible for allowing an aorta to grow too big," he says.
"Pregnant women who want to know if their foetus has any genetic abnormality can also get their blood tested.
In HOCM, "a genetic abnormality causes the muscle wall of the heart to grow far thicker than it should," potentially stopping blood from flowing in and out of the heart.
CVS is carried out where there is evidence that an unborn baby may have a genetic abnormality, the most common of which is Down's syndrome.
The del (13q) was the most common genetic abnormality and was identified in 42.7% (median 67%, range 22-100, n=65) of patients (Figure 1G and H); in 49.2% (32/65) of cases it was concomitantly found with a 14q32 rearrangement.
Food and Drug Administration has approved a new drug targeting a subset of leukemia patients with a genetic abnormality that makes the cancer harder to treat, according to AP.
ISLAMABAD -- An enhanced diet is likely to help curb hearing loss due to genetic abnormality that is most commonly responsible for childhood deafness, new research suggests.
In the present study 2.5% patients suffering from primary infertility showed numerical genetic abnormality i.e.
The patent relates to a non-invasive testing technology of fetal genetic abnormality, researched and developed independently by BGI, through carrying out DNA sequencing in blood samples of pregnant women, to non-invasively detect for fetal genetic abnormality.
There is, however, a story about a young girl with an unexplained genetic abnormality that makes people think she is a vampire.