Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:horseshoe_kidney
depression social anxiety ADHD learning disabilities parenting challenges academic challenges body image issues diabetes mellitus hypothyroidism lymphedema self-esteem issues autism spectrum disorder autoimmune disorders decreased bone density scoliosis career challenges broad chest social skills deficits webbed neck emotional regulation issues bicuspid aortic valve challenges in peer relationships coarctation of the aorta cubitus valgus executive function deficits hypoplastic nails low hairline nail dysplasia shortened metacarpals transition to adulthood challenges visual-spatial difficulties healthcare_access_issues |
| gptkbp:causedBy |
complete or partial absence of one X chromosome
|
| gptkbp:complications |
hearing loss
infertility heart disease osteoporosis learning difficulties |
| gptkbp:demographics |
1 in 2,500 female births
|
| gptkbp:diseaseResistance |
karyotype analysis
|
| gptkbp:geneticDiversity |
X chromosome
|
| https://www.w3.org/2000/01/rdf-schema#label |
Turner syndrome
|
| gptkbp:impact |
females
growth hormone therapy estrogen replacement therapy |
| gptkbp:introduced |
gptkb:Henry_Turner
|
| gptkbp:legalEvent |
normal with treatment
|
| gptkbp:previouslyKnownAs |
gptkb:Turner’s_syndrome
45,X syndrome |
| gptkbp:research |
chorionic villus sampling
amniocentesis |
| gptkbp:researchAreas |
psychosocial support
genetic therapies hormonal treatments |
| gptkbp:riskManagement |
maternal age
random genetic error |
| gptkbp:screenings |
ultrasound during pregnancy
|
| gptkbp:supports |
gptkb:Turner_Syndrome_Foundation
gptkb:Turner_Syndrome_Society |
| gptkbp:symptoms |
heart defects
short stature kidney problems skeletal abnormalities ovarian insufficiency |