Down's syndrome

Down syndrome

n (Pathology) pathol a. a condition caused by the presence of an extra copy of chromosome 21 resulting in learning difficulties and physical differences, such as shorter stature. Former name (offensive): mongolism Technical name: trisomy 21 b. (as modifier): a Down's syndrome baby. [C19: after John Langdon-Down (1828–96), English physician]Usage: Although the condition was once generally known as mongolism, this term has been considered offensive since the early 1960s. The terms Down's syndrome or (US) Down syndrome are now preferred.

Down’s syndrome

mongolism.See also: Disease and Illness

Thesaurus

Noun

Down's syndrome - a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardationDown syndrome, mongolianism, mongolism, trisomy 21birth defect, congenital abnormality, congenital anomaly, congenital defect, congenital disorder - a defect that is present at birthtrisomy - chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

Translations

Down's syndrome

→ 唐氏综合症zhCN

Down's Syndrome

Down's syndrome

[′dau̇nz ‚sin‚drōm] (medicine) A syndrome of congenital defects, especially mental retardation, typical facies responsible for the term mongolism, and cytogenetic abnormality consisting of trisomy 21 or its equivalent in the form of an unbalanced translocation. Also known as mongolism; trisomy 21 syndrome.

Down’s Syndrome

a form of congenital feeblemindedness; first described in 1866 by the English physician L. Down, who called the condition mongolism.

An anomalous set of chromosomes lies at the basis of Down’s syndrome. Persons affected with the syndrome have 47 chromosomes in their cells instead of the usual 46 (that is, three instead of two chromosomes in the 21st pair). This disruption (trisomy) of the karyotype occurs when a separation of the chromosomes of the 21st pair has occurred during maturation of the germ cell in the mother and the formed egg cell contains 24 chromosomes; the causes have not as yet been studied. Patients with Down’s syndrome present a characteristic appearance: round face, short nose with a wide bridge, slanted eyes with a skin fold at the corner, half-opened mouth, large tongue, sparse teeth, and an anteriopos-teriorly flattened head. Muscular weakness, loose joints, retarded physical development, distended abdomen, and underdeveloped sexual organs are also noted. Down’s syndrome is often accompanied by heart disease and impairment of vision. The degree of mental underdevelopment varies from complete idiocy to slight degrees of mental deficiency. Patients are inclined to imitativeness; they are basically affectionate, good-natured, and friendly. Treatment is largely ineffective; hormonal preparations and glutamic acid are used. Education is offered in auxiliary schools. Occupational therapy plays an important role in the treatment and education of patients.

N. D. MIKERINA

Down's syndrome

(dounz)n. Variant of Down syndrome.

Down's syndrome

A major genetic disorder caused by the presence of an extra chromosome 21 (trisomy 21). People with Down's syndrome have oval, down-sloping eyelid openings, a large, protruding tongue and small ears. There is always some degree of learning difficulty, but this need not be severe and many people with Down's syndrome are able to engage in simple employment. Antenatal screening for Down's syndrome has been improved since the end of the 20th century. A quadruple-test screening algorithm for all pregnant women, that includes maternal serum alphafetoprotein, human chorionic gonadotropin, unconjugated oestriol (estriol) and inhibin A is now in use to determine whether pregnant women need be offered AMNIOCENTESIS or CHORIONIC VILLUS SAMPLING. Other factors such as maternal age and ultrasound identification of fetal abnormalities are also important. Full karyotyping after a positive screen test has recently been replaced by the rapid diagnostic procedures of fluorescence-in-situ hybridization (FISH) or PCR. (John Langdon Haydon Down, 1828–96, English physician).

Down's syndrome

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Down’s syndrome

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Down's Syndrome

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Synonyms for Down's syndrome

noun a congenital disorder caused by having an extra 21st chromosome

Synonyms

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