Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Down_syndrome
|
| gptkbp:associatedWith |
increased risk of Alzheimer disease
increased risk of leukemia thyroid disorders vision problems hearing loss |
| gptkbp:cause |
presence of an extra copy of chromosome 21
|
| gptkbp:chromosomeAffected |
chromosome 21
|
| gptkbp:diagnosedBy |
karyotype analysis
|
| gptkbp:firstDescribed |
gptkb:John_Langdon_Down
1866 |
| gptkbp:frequency |
about 1 in 700 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
standard trisomy 21
|
| gptkbp:inheritance |
usually not inherited
|
| gptkbp:lifeExpectancy |
increased with medical advances
|
| gptkbp:prevalence |
most common chromosomal abnormality in humans
|
| gptkbp:proportionOfCases |
about 95% of Down syndrome cases
|
| gptkbp:riskFactor |
advanced maternal age
|
| gptkbp:symptom |
congenital heart defects
distinct facial features hypotonia intellectual disability |
| gptkbp:treatment |
supportive care
|
| gptkbp:type |
aneuploidy
|
| gptkbp:bfsParent |
gptkb:trisomy_21
|
| gptkbp:bfsLayer |
6
|