"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
|
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 | 1 | 2 | 3 |
1996 | 1 | 0 | 1 |
1998 | 0 | 1 | 1 |
1999 | 2 | 0 | 2 |
2000 | 0 | 1 | 1 |
2001 | 2 | 0 | 2 |
2002 | 0 | 2 | 2 |
2003 | 1 | 1 | 2 |
2004 | 5 | 0 | 5 |
2005 | 3 | 0 | 3 |
2006 | 3 | 0 | 3 |
2007 | 4 | 0 | 4 |
2008 | 5 | 1 | 6 |
2009 | 3 | 2 | 5 |
2010 | 5 | 0 | 5 |
2011 | 6 | 1 | 7 |
2012 | 2 | 3 | 5 |
2013 | 7 | 5 | 12 |
2014 | 7 | 2 | 9 |
2015 | 5 | 2 | 7 |
2016 | 1 | 0 | 1 |
2017 | 8 | 2 | 10 |
2018 | 4 | 1 | 5 |
2019 | 7 | 1 | 8 |
2020 | 7 | 0 | 7 |
2021 | 7 | 1 | 8 |
2022 | 11 | 0 | 11 |
2023 | 13 | 0 | 13 |
2024 | 3 | 1 | 4 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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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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Neurocognitive and psychosocial outcomes in survivors of childhood leukemia with Down syndrome. Cancer Med. 2024 Feb; 13(3):e6842.
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Survival outcomes of children with relapsed or refractory myeloid leukemia associated with Down syndrome. Blood Adv. 2023 11 14; 7(21):6532-6539.
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Outcomes in Children, Adolescents, and Young Adults With Down Syndrome and ALL: A Report From the Children's Oncology Group. J Clin Oncol. 2024 Jan 10; 42(2):218-227.
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Epigenomic signature of major congenital heart defects in newborns with Down syndrome. Hum Genomics. 2023 Oct 06; 17(1):92.
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Down syndrome and leukemia: from basic mechanisms to clinical advances. Haematologica. 2023 10 01; 108(10):2570-2581.
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Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome. Stem Cell Res Ther. 2023 09 23; 14(1):265.
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Performance of the Spot Vision Screener in children with Down syndrome and other special needs. J AAPOS. 2023 10; 27(5):274.e1-274.e7.