Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
chromosomal abnormality |
| gptkbp:cause |
gptkb:Robertsonian_translocation
extra chromosome 21 material |
| gptkbp:chromosomeInvolved |
gptkb:chromosome_14
chromosome 21 chromosome 21 (second copy) |
| gptkbp:diagnosedBy |
karyotype analysis
|
| gptkbp:frequency |
2-4% of Down syndrome cases
|
| https://www.w3.org/2000/01/rdf-schema#label |
translocation Down syndrome
|
| gptkbp:inheritance |
can be de novo
can be inherited |
| gptkbp:OMIM |
190685
|
| gptkbp:riskFactor |
parental balanced translocation
|
| gptkbp:subspecies |
gptkb:Down_syndrome
|
| gptkbp:symptom |
congenital heart defects
intellectual disability characteristic facial features |
| gptkbp:bfsParent |
gptkb:trisomy_21
|
| gptkbp:bfsLayer |
6
|