"Down Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Descriptor ID |
D004314
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MeSH Number(s) |
C10.597.606.643.220 C16.131.077.327 C16.131.260.260 C16.320.180.260
|
Concept/Terms |
Down Syndrome- Down Syndrome
- Syndrome, Down
- Mongolism
- Trisomy 21
- 47,XX,+21
- 47,XY,+21
- Down's Syndrome
- Downs Syndrome
- Syndrome, Down's
- Trisomy G
|
Below are MeSH descriptors whose meaning is more general than "Down Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Down Syndrome".
This graph shows the total number of publications written about "Down Syndrome" by people in this website by year, and whether "Down Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1995 | 2 | 1 | 3 |
1996 | 1 | 0 | 1 |
1997 | 1 | 0 | 1 |
2001 | 2 | 0 | 2 |
2002 | 0 | 2 | 2 |
2003 | 1 | 1 | 2 |
2004 | 5 | 0 | 5 |
2005 | 2 | 1 | 3 |
2006 | 2 | 0 | 2 |
2007 | 4 | 0 | 4 |
2008 | 5 | 1 | 6 |
2009 | 5 | 1 | 6 |
2010 | 5 | 0 | 5 |
2011 | 6 | 1 | 7 |
2012 | 2 | 2 | 4 |
2013 | 6 | 4 | 10 |
2014 | 7 | 1 | 8 |
2015 | 5 | 2 | 7 |
2016 | 1 | 0 | 1 |
2017 | 7 | 2 | 9 |
2018 | 3 | 1 | 4 |
2019 | 8 | 1 | 9 |
2020 | 10 | 0 | 10 |
2021 | 9 | 1 | 10 |
2022 | 12 | 0 | 12 |
2023 | 15 | 0 | 15 |
2024 | 6 | 1 | 7 |
2025 | 5 | 0 | 5 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome. Nat Commun. 2025 Jul 09; 16(1):6316.
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Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS. Genet Epidemiol. 2025 Jun; 49(4):e70010.
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Lethal Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts. Pediatr Dev Pathol. 2025 Sep-Oct; 28(5):416-419.
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Trends in the Prevalence of Down Syndrome (Trisomy 21) in Texas by Maternal Race/Ethnicity and Maternal Age Groups, 1999-2020. Am J Med Genet A. 2025 Sep; 197(9):e64109.
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Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society. Neuromolecular Med. 2025 01 05; 27(1):5.
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Co-targeting of the thymic stromal lymphopoietin receptor to decrease immunotherapeutic resistance in CRLF2-rearranged Ph-like and Down syndrome acute lymphoblastic leukemia. Leukemia. 2025 Mar; 39(3):555-567.
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De novo variants in immune regulatory genes in Down syndrome regression disorder. J Neurol. 2024 Aug; 271(8):5567-5576.
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Pediatric cervical spine instability: evolving concepts. Childs Nerv Syst. 2024 Sep; 40(9):2843-2850.
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COVID-19 infection in children, adolescents, and young adults with Down syndrome and hematologic malignancies. Pediatr Blood Cancer. 2024 Aug; 71(8):e31082.
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Rate and management of tympanic membrane perforations in children with Down syndrome and middle ear disorder. Int J Pediatr Otorhinolaryngol. 2024 May; 180:111954.