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gptkbp:instanceOf
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gptkb:genetic_disorder
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gptkbp:alsoKnownAs
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gptkb:Down_syndrome
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gptkbp:associatedWith
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increased risk of Alzheimer disease
increased risk of leukemia
thyroid disorders
vision problems
hearing loss
sleep apnea
gastrointestinal anomalies
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gptkbp:cause
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presence of extra chromosome 21
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gptkbp:chromosomeAffected
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chromosome 21
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gptkbp:diagnosedBy
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karyotype analysis
prenatal screening
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gptkbp:firstDescribed
|
gptkb:John_Langdon_Down
1866
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gptkbp:frequency
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most common chromosomal abnormality in humans
about 6 million people worldwide
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gptkbp:frequencyBySex
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affects both males and females equally
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gptkbp:geneticMechanism
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nondisjunction during meiosis
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gptkbp:hasAwarenessDay
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gptkb:March_21_(World_Down_Syndrome_Day)
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gptkbp:ICD-10_code
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gptkb:Q90
|
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gptkbp:inheritance
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usually not inherited
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gptkbp:lifeExpectancy
|
about 60 years (varies)
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gptkbp:MeSH_ID
|
gptkb:D004314
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gptkbp:namedAfter
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gptkb:John_Langdon_Down
|
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gptkbp:OMIM
|
190685
|
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gptkbp:prevalence
|
about 1 in 700 live births
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gptkbp:riskFactor
|
advanced maternal age
|
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gptkbp:subspecies
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gptkb:mosaic_Down_syndrome
gptkb:standard_trisomy_21
gptkb:translocation_Down_syndrome
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gptkbp:symbol
|
47,XX,+21 or 47,XY,+21
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gptkbp:symptom
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gptkb:intellectual_disability
congenital heart defects
distinct facial features
hypotonia
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gptkbp:treatment
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special education
supportive care
early intervention programs
medical management of complications
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gptkbp:bfsParent
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gptkb:Down_syndrome
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gptkbp:bfsLayer
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5
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https://www.w3.org/2000/01/rdf-schema#label
|
trisomy 21
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