dapi and Down Syndrome
dapi has been researched along with Down Syndrome in 2 studies
DAPI: RN given refers to parent cpd.
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 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)
Research Excerpts
| Excerpt | Relevance | Reference |
|---|---|---|
| "One cfDNA result that reported trisomy 21 in the fetus was confirmed by karyotyping which also added an originally undetected balanced reciprocal translocation." | 1.42 | Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes. ( Lebo, RV; Mancuso, MS; Michelson, M; Novak, RW; Robinson, H; Wolfe, K, 2015) |
Research
Studies (2)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Corrales, A | 1 |
| Vidal, R | 1 |
| García, S | 1 |
| Vidal, V | 1 |
| Martínez, P | 1 |
| García, E | 1 |
| Flórez, J | 1 |
| Sanchez-Barceló, EJ | 1 |
| Martínez-Cué, C | 1 |
| Rueda, N | 1 |
| Lebo, RV | 1 |
| Novak, RW | 1 |
| Wolfe, K | 1 |
| Michelson, M | 1 |
| Robinson, H | 1 |
| Mancuso, MS | 1 |
Other Studies
2 other studies available for dapi and Down Syndrome
| Article | Year |
|---|---|
Chronic melatonin treatment rescues electrophysiological and neuromorphological deficits in a mouse model of Down syndrome.
Topics: Analysis of Variance; Animals; Disease Models, Animal; Down Syndrome; Female; Hippocampus; Indoles; | 2014 |
Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes.
Topics: Amniocentesis; Chromosome Banding; Chromosomes, Human, X; Cytogenetic Analysis; DNA; Down Syndrome; | 2015 |