trisomy 12

GPTKB entity

Statements (15)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affectsChromosome gptkb:chromosome_12
gptkbp:associatedWith intellectual disability
chronic lymphocytic leukemia
developmental delay
dysmorphic features
gptkbp:canBeMosaic true
gptkbp:causedBy presence of extra chromosome 12
gptkbp:diagnosedBy karyotyping
gptkbp:firstDescribed 1960s
gptkbp:hasChromosomeCount 47
https://www.w3.org/2000/01/rdf-schema#label trisomy 12
gptkbp:prevalence rare
gptkbp:bfsParent gptkb:small_lymphocytic_lymphoma
gptkbp:bfsLayer 6