Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic abnormality
chromosomal rearrangement |
| gptkbp:affects |
acrocentric chromosomes
|
| gptkbp:affectsHumans |
yes
|
| gptkbp:affectsOtherSpecies |
yes
|
| gptkbp:canBe |
balanced
unbalanced |
| gptkbp:canBeDeNovo |
yes
|
| gptkbp:cause |
gptkb:Down_syndrome
gptkb:Patau_syndrome reproductive issues |
| gptkbp:commonIn |
chromosomes 13, 14, 15, 21, 22
|
| gptkbp:diagnosedBy |
karyotyping
|
| gptkbp:discoveredIn |
1916
|
| gptkbp:frequency |
1 in 1000 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Robertsonian translocation
|
| gptkbp:inheritance |
autosomal dominant manner
|
| gptkbp:involves |
fusion of two chromosomes
|
| gptkbp:mechanismOfAction |
centromeric fusion
|
| gptkbp:namedAfter |
gptkb:W.R.B._Robertson
|
| gptkbp:result |
one large chromosome and one small fragment
|
| gptkbp:bfsParent |
gptkb:translocation_Down_syndrome
|
| gptkbp:bfsLayer |
7
|