Patau syndrome

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects humans
gptkbp:alsoKnownAs trisomy 13
gptkbp:causedBy trisomy of chromosome 13
gptkbp:diagnosedBy karyotyping
prenatal genetic testing
gptkbp:firstDescribed 1960
Klaus Patau
gptkbp:frequency 1 in 10,000 to 16,000 live births
https://www.w3.org/2000/01/rdf-schema#label Patau syndrome
gptkbp:ICD-10_code Q91.4
gptkbp:medianSurvival 7 to 10 days
gptkbp:mostPatientsDieWithin first year of life
gptkbp:OMIM # 263700
gptkbp:prognosis poor
gptkbp:riskFactor advanced maternal age
gptkbp:symptom gptkb:holoprosencephaly
congenital heart defects
intellectual disability
polydactyly
microcephaly
cleft lip
cleft palate
microphthalmia
gptkbp:treatment supportive care
gptkbp:bfsParent gptkb:Robertsonian_translocation
gptkb:Trisomy_13
gptkbp:bfsLayer 8