"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
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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
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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.
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Year | Major Topic | Minor Topic | Total |
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1999 | 1 | 0 | 1 |
2006 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2009 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2017 | 1 | 1 | 2 |
2018 | 1 | 1 | 2 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation. Clin Epigenetics. 2019 12 16; 11(1):195.
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Genetic variation associated with chromosomal aberration frequency: A genome-wide association study. Environ Mol Mutagen. 2019 01; 60(1):17-28.
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Increased cerebral microbleeds and cortical superficial siderosis in pediatric patients with Down syndrome. Eur J Paediatr Neurol. 2019 Jan; 23(1):158-164.
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Smoldering Development of Acute Megakaryoblastic Leukemia with Clonal Evolution in an Infant without Down Syndrome. Klin Padiatr. 2017 11; 229(6):352-354.
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Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. Proc Natl Acad Sci U S A. 2017 05 16; 114(20):E4030-E4039.
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Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders. Neural Plast. 2016; 2016:4235898.
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Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. Blood. 2010 Feb 04; 115(5):1006-17.
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Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet. 2008 Oct 25; 372(9648):1484-92.
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MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? Eur J Pediatr. 2006 Aug; 165(8):566-8.
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Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion. Genes Chromosomes Cancer. 1999 Mar; 24(3):272-7.