Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
males
|
| gptkbp:alsoKnownAs |
gptkb:46,XX_testicular_disorder_of_sex_development
|
| gptkbp:causedBy |
SRY gene translocation
|
| gptkbp:chromosomalAbnormality |
46,XX karyotype
|
| gptkbp:diagnosedBy |
karyotype analysis
genetic testing |
| gptkbp:firstDescribed |
1972
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
de la Chapelle syndrome
|
| gptkbp:inheritance |
not inherited (de novo mutation)
|
| gptkbp:namedAfter |
gptkb:Albert_de_la_Chapelle
|
| gptkbp:prevalence |
1 in 20,000 to 25,000 male births
|
| gptkbp:symptom |
infertility
gynecomastia small testes reduced facial hair male phenotype |
| gptkbp:treatment |
testosterone replacement therapy
surgical management of gynecomastia |
| gptkbp:bfsParent |
gptkb:46,XX_sex_reversal
gptkb:46,XX_testicular_disorder_of_sex_development |
| gptkbp:bfsLayer |
8
|