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Down Syndrome - Genetics
Research News and Information
Definition of 'Down Syndrome'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 MENTAL RETARDATION. 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) |
Monday, November 23, 2009
Telomere aggregates in trisomy 21 amniocytes.
30 Oct 2009 
Trisomy 21 is the most common chromosomal abnormality among persons with intellectual disability, with a live birth rate of 1 in 800-1,000. As such, this abnormality may serve as a model for human disorders that result from supernumerary copies of a ... Read more...
Marathon of eponyms: 4 Down syndrome.
30 Aug 2009 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in Diseases of the head and neck is mainly in specialties dealing with medically ... Read more...
30 Aug 2009 Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most recognizable form of mental retardation, appearing in about 1 of ... Read more...
Latest indexed articles for 'Down Syndrome - Genetics'
These are the very latest articles for this heading:
- Telomere aggregates in trisomy 21 amniocytes. 30 Oct 2009
- Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
- Hands down: reflecting on the 50th anniversary of the description of Trisomy 21.
30 Aug 2009 - Down syndrome: the crucible for treating genomic imbalance. 30 Aug 2009
- The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. 30 Aug 2009
- Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology. 30 Aug 2009
- Antibodies to neurofilaments. 30 Aug 2009
- Down syndrome offers fresh clues to angiogenesis. 23 Aug 2009
- Function and regulation of Dyrk1A: towards understanding Down syndrome. 12 Aug 2009
- Investigation of factors associated with paternal nondisjunction of chromosome 21. 30 Jul 2009
- Genetic testing in global developmental delay: the well-intended clinician and the principle of double effect. 30 Jul 2009
- Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. 22 Jul 2009
- Increased lipid peroxidation in Down's syndrome mouse models. 21 Jul 2009
- Decreased brain-derived neurotrophic factor depends on amyloid aggregation state in transgenic mouse models of Alzheimer's disease. 20 Jul 2009
- Mosaic trisomy 21/monosomy 21 in a living female infant. 12 Jul 2009
- The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
11 Jul 2009 - Age-dependent dysregulation of brain amyloid precursor protein in the Ts65Dn Down syndrome mouse model. 8 Jul 2009
- Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. 29 Jun 2009
- Aneuploidy: from a physiological mechanism of variance to Down syndrome. 29 Jun 2009
- GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis. 29 Jun 2009
See a longer list of these articles.
Technical information about 'Down Syndrome'
Definition: 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 MENTAL RETARDATION. 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 UI: D004314
Alternative terms: Down Syndrome; Syndrome, Down; Mongolism; Trisomy 21; Down's Syndrome; Downs Syndrome; Syndrome, Down's; Trisomy 21, Meiotic Nondisjunction; Trisomy 21, Mitotic Nondisjunction; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome;
Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;
Tree Number: C10.597.606.643.220; C16.131.077.327; C16.131.260.260; C16.320.180.260;
Online Note: use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74
History Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74