Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectedArea |
q11.2 region
|
| gptkbp:alsoKnownAs |
gptkb:DiGeorge_syndrome
gptkb:velocardiofacial_syndrome conotruncal anomaly face syndrome |
| gptkbp:causedBy |
deletion of a small segment of chromosome 22
|
| gptkbp:chromosomeAffected |
chromosome 22
|
| gptkbp:diagnosedBy |
gptkb:FISH
chromosomal microarray |
| gptkbp:firstDescribed |
1968
|
| gptkbp:frequency |
most common microdeletion syndrome in humans
|
| gptkbp:geneAffected |
TBX1
|
| https://www.w3.org/2000/01/rdf-schema#label |
22q11.2 deletion syndrome
|
| gptkbp:ICD-10_code |
D82.1
|
| gptkbp:inheritance |
autosomal dominant
de novo mutation |
| gptkbp:namedAfter |
chromosomal location 22q11.2
|
| gptkbp:OMIM |
188400
|
| gptkbp:prevalence |
1 in 4,000 live births
|
| gptkbp:riskFactor |
advanced parental age
|
| gptkbp:supportersGroup |
22q11.2 Society
International 22q11.2 Foundation |
| gptkbp:symptom |
congenital heart defects
developmental delay learning difficulties immune deficiency psychiatric disorders hypocalcemia characteristic facial features palatal abnormalities |
| gptkbp:treatment |
speech therapy
symptomatic management immune system support surgery for heart defects |
| gptkbp:bfsParent |
gptkb:Tetralogy_of_Fallot
|
| gptkbp:bfsLayer |
6
|