Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
mosaic trisomy 21
|
| gptkbp:causedBy |
presence of an extra chromosome 21 in some cells
|
| gptkbp:complication |
congenital heart defects
increased risk of leukemia thyroid disorders vision problems hearing loss |
| gptkbp:diagnosedBy |
karyotype analysis
|
| gptkbp:firstDescribed |
1959
|
| gptkbp:frequency |
rare compared to standard Down syndrome
|
| gptkbp:geneticMechanism |
nondisjunction during cell division after fertilization
|
| https://www.w3.org/2000/01/rdf-schema#label |
mosaic Down syndrome
|
| gptkbp:inheritance |
not inherited
|
| gptkbp:prevalence |
2-4% of Down syndrome cases
|
| gptkbp:prognosis |
variable, often milder than typical Down syndrome
|
| gptkbp:riskFactor |
advanced maternal age
|
| gptkbp:subspecies |
gptkb:Down_syndrome
|
| gptkbp:symptom |
distinct facial features
hypotonia intellectual disability developmental delays |
| gptkbp:treatment |
supportive care
early intervention programs |
| gptkbp:bfsParent |
gptkb:trisomy_21
|
| gptkbp:bfsLayer |
6
|