"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)
- Down Syndrome
- Syndrome, Down
- Trisomy 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.
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome. Sci Rep. 2020 10 22; 10(1):18051.
An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome. Semin Thorac Cardiovasc Surg. 2020 Winter; 32(4):947-957.
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated. Diabetes. 2019 07; 68(7):1528-1535.
Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med. 2017 Jun; 34:84-89.
A predictive model for obstructive sleep apnea and Down syndrome. Am J Med Genet A. 2017 Apr; 173(4):889-896.
Anomalous stapes in Down syndrome. Ear Nose Throat J. 2017 Jan; 96(1):15-19.
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 05 19; 127(20):2391-405.
Functioning in children and adolescents with Down syndrome on a population level: scientific opportunities and community care. Dev Med Child Neurol. 2016 05; 58(5):433-5.
The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model. BMC Dev Biol. 2015 Jul 25; 15:30.
Extracorporeal Membrane Oxygenation in Pediatric Trisomy 21: 30 Years of Experience from the Extracorporeal Life Support Organization Registry. J Pediatr. 2015 Aug; 167(2):403-8.