down syndrome

English - Turkish

Definition of down syndrome in English Turkish dictionary

(Pisikoloji, Ruhbilim) down sendromu

Related Terms

Down's Syndrome

Down sendromu

English - English

Definition of down syndrome in English English dictionary

Condition caused by a chromosomal excess, whereby the patients bear a certain resemblance to the Mongoloid race, such as a small head and tilted eyelids

or trisomy 21 Congenital disorder caused by an extra chromosome (trisomy) on the chromosome 21 pair. Those with the syndrome may have broad, flat faces; up-slanted eyes, sometimes with epicanthal folds (whence its former name, mongolism); mental retardation (usually moderate); heart or kidney malformations; and abnormal fingerprint patterns. Many persons with Down syndrome can live and work independently or in a sheltered environment, but they age prematurely and have a short (55-year) life expectancy. The risk of bearing a child with the disorder increases with the mother's age; it can be detected in the fetus by amniocentesis

A congenital disorder, caused by the presence of an extra 21st chromosome, in which the affected person has mild to moderate mental retardation, short stature, and a flattened facial profile. Also called trisomy

Human cells usually contain 46 chromosomes which carry the genes that are responsible for all our inherited characteristics In Down Syndrome, the cells usually contain not 46, but 47 chromosomes; with the extra chromosome being a number 21 This excess genetic material, in the form of additional genes along the 21st chromosome, results in Down Syndrome Because 95 percent of all cases of Down Syndrome occur because there are three copies of the 21st chromosome, it is referred to as "trisomy 21 "

A chromosomal anomaly that often causes moderate to severe mental retardation, along with certain physical characteristics such as a large tongue, heart problems, poor muscle tone, and a broad, flat bridge of the nose

The most common malformation caused by trisomy 21 Most of the patients (95%) have complete trisomy of chromosome 21; some have translocation or mosaic forms The phenotype is diagnostic (short stature, characteristic facial appearance, mental retardation, brachydactyly, atlanto-axial instability, thyroid and white blood cell disorders) Congenital heart defects are frequent, atrioventricular septal defect and ventricular septal defect being the most common Mitral valve prolapse and aortic regurgitation may be present Down syndrome patients are prone to earlier and more severe pulmonary vascular disease than might otherwise expected as a consequence of the lesions identified

a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation

A combination of birth defects caused by the presence of an extra #21 chromosome in each cell of the body Many children with Down syndrome also have congenital heart disease - usually atrioventricular canal defect

A congenital condition causing mental retardation and unique physical characteristics Caused by an extra chromosome number 21

A syndrome characterized by hypotonia, flat facial profile, upwardly slanted eyes, small low-set ears, short stature, mental retardation, small nose with a low nasal bridge, and spots at the periphery of the iris These individuals have an extra chromosome and may have congenital heart problems and hearing loss Back to the top E

a syndrome of mental retardation and a number of abnormalities that vary greatly among those affected; caused by a triplication or translocation of chromosome 21; speech and language development can be delayed secondary to cognitive impairment, with possible compensatory articulation secondary to cleft palate and VPI

A combination of birth defects caused by the presence of an extra #21 chromosome

A common genetic disorder in which there is an extra copy of chromosome number 21 (trisomy 21), resulting in mental retardation and physical malformations

(Also called Trisomy 21 ) - A combination of birth defects caused by the presence of an extra #21 chromosome in each cell of the body Many children with Down syndrome also have congenital heart disease - usually atrioventricular canal defect

mongolism

Related Terms

Down's syndrome

Condition caused by a chromosomal deficiency, whereby the patients bear a certain resemblance to the Mongoloid race, such as a small head and tilted eyelids

Down's syndrome

Down's syn·drome in AM, usually use Down syndrome Down's syndrome is a disorder that some people are born with. People who have Down's syndrome have a flat forehead and sloping eyes and lower than average intelligence. Variant of Down syndrome. a condition that someone is born with, that stops them from developing in a normal way, both mentally and physically (J. H. L. Down (1828-96), English doctor)

Down's syndrome

type of mental retardation caused by a person having abnormal chromosomes

Hyphenation

Down syn·drome

Turkish pronunciation

daun sîndrōm

Synonyms

trisomy 21

Pronunciation

/ˈdoun ˈsənˌdrōm/ /ˈdaʊn ˈsɪnˌdroʊm/

Etymology

[ 'daun ] (adverb.) before 12th century. Named after John L.H. Langdon-Down (1828-1896), an English physician who described it in the late 1800s. The term was first used in 1961.