Down syndrome

Also known as Down's syndrome, trisomy 21 syndrome, Complete trisomy 21 syndrome (disorder), Complete trisomy 21 syndrome, Downs syndrome, trisomy 21, Down's syndrome - trisomy 21, G Trisomy

chromosomal condition

AI overview

Down syndrome is a genetic condition that occurs when a person is born with an extra copy of chromosome 21, which affects how their body and brain develop. It matters because it is one of the most common chromosomal conditions in humans and can impact physical health, learning abilities, and development throughout a person's life.

AI-generated from the Wikipedia summary — may contain errors.

Research

49,633 papers

Down Syndrome.ReviewThe New England journal of medicine · 2020Bull MJDOI: 10.1056/NEJMra1706537
Endocrine manifestations of Down syndrome.ReviewCurrent opinion in endocrinology, diabetes, and obesity · 2018Whooten R, Schmitt J, Schwartz ADOI: 10.1097/MED.0000000000000382
Down syndrome: a review of the literature.ReviewOral surgery, oral medicine, oral pathology, oral radiology, and endodontics · 1997Desai SSDOI: 10.1016/s1079-2104(97)90343-7
Diagnosis and management of Down syndrome.Indian journal of pediatrics · 2014Agarwal Gupta N, Kabra MDOI: 10.1007/s12098-013-1249-7
Down Syndrome: A Review of Key Perioperative Implications.ReviewAORN journal · 2022Hines CB, Simmons SADOI: 10.1002/aorn.13712
Intricacies of aging and Down syndrome.ReviewNeuroscience and biobehavioral reviews · 2024Kozlov G, Franceschi C, Vedunova MDOI: 10.1016/j.neubiorev.2024.105794
Down's syndrome.ReviewPediatric annals · 1978Coleman M
Down syndrome.ReviewPediatric clinics of North America · 1993Hayes A, Batshaw MLDOI: 10.1016/s0031-3955(16)38548-0

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Wikidata facts

Image: Boy with Down Syndrome.JPG

Show 9 more facts

Commons category: Down syndrome
NCI Thesaurus ID: C2993
ICPC 2 ID: A90
exact match: identifiers.org/doid/DOID:14250
P4229: Paris
chromosome count: 47
ICD-9-CM: 758.0
WordLift URL: data.medicalrecords.com/medicalrecords/healthwise/down_syndrome
prevalence: 0.001

Sources (8)

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Article

Down syndrome or Down's syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.

The parents of the affected individual are usually genetically normal. The incidence of the syndrome increases with the age of the mother, from less than 0.1% for 20-year-old mothers to 3% for those of age 45. It is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Three different genetic forms have been identified. The most common, trisomy 21, involves an extra copy of chromosome 21 in all cells. The extra chromosome is provided at conception as the egg and sperm combine. Translocation Down syndrome involves attachment of extra chromosome 21 material. In 1–2% of cases, the additional chromosome is added in the embryo stage and only affects some of the cells in the body; this is known as mosaic Down syndrome.