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Down Syndrome
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) |
Saturday, November 21, 2009
Autologous stem cell transplant in a patient with Down syndrome and relapsed Hodgkin lymphoma.
13 Dec 2009 
Children with Down syndrome (DS) are at increased risk for the development of acute leukemia but they rarely develop other hematologic malignancies or solid tumors. Despite aggressive supportive care, DS patients have increased risk of treatment ... Read more...
Medulloblastoma in a child with down syndrome: long-term remission with multimodality treatment.
29 Nov 2009 A 4(3/4)-year-old male with Down syndrome (DS) presented with unsteady gait and fatigue. Neuroimaging revealed a cerebellar mass with concomitant obstructive hydrocephalus and additional metastatic lesions. He was successfully treated and is still ... Read more...
30 Oct 2009 Down's syndrome neurophenotypes are characterized by mental retardation and a decreased brain volume. To identify whether deficits in proliferation could be responsible for this phenotype, neural progenitor cells were isolated from the developing ... Read more...
Latest indexed articles for 'Down Syndrome'
These are the very latest articles for this heading:
- Autologous stem cell transplant in a patient with Down syndrome and relapsed Hodgkin lymphoma. 13 Dec 2009
- Medulloblastoma in a child with down syndrome: long-term remission with multimodality treatment. 29 Nov 2009
- Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres. 30 Oct 2009
- Telomere aggregates in trisomy 21 amniocytes. 30 Oct 2009
- Permanent sterilization of mentally disabled individuals: a case study.
30 Oct 2009 - Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. 24 Oct 2009
- Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. 26 Sep 2009
- Increased prevalence of renal and urinary tract anomalies in children with Down syndrome. 12 Sep 2009
- Advice from parents on telling the difficult news. 30 Aug 2009
- Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
- Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements. 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 or up? Explaining positive and negative emotions in parents of children with Down's syndrome: Goals, cognitive coping, and resources. 30 Aug 2009
- Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome. 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
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