Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:Patau_syndrome
|
| gptkbp:causedBy |
presence of an extra chromosome 13
|
| gptkbp:chromosomeAffected |
gptkb:chromosome_13
|
| gptkbp:diagnosedBy |
karyotype analysis
prenatal genetic testing |
| gptkbp:firstDescribed |
1960
Klaus Patau |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Trisomy 13
|
| gptkbp:ICD-10_code |
Q91.4
|
| gptkbp:inheritance |
usually not inherited
usually due to nondisjunction |
| gptkbp:medianSurvival |
less than 1 year
|
| gptkbp:MeSH_ID |
D013918
|
| gptkbp:OMIM |
# 263700
|
| gptkbp:prevalence |
1 in 10,000 to 16,000 live births
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
gptkb:holoprosencephaly
congenital heart defects polydactyly renal anomalies low-set ears cleft lip cleft palate severe intellectual disability microphthalmia scalp defects |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Verifi_Prenatal_Test
gptkb:Trisomy_18 |
| gptkbp:bfsLayer |
7
|