Down's syndrome in afya

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at 30yr 1/1000
at 35yr 1/350
at 40yr 1/100
at 45yr 1/30
(each risk divide by 3)

''Cytogenetics''
Non-dysjunction - 94% - recurrence risk 1 in 100 if women <35yrs
Robertsonian translocation (usually to ch14) 10-15% if mother carrier, 2.5% if father
Mosaic 1%

''Clinical features''
    face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, round/flat face
    flat occiput
    single palmar crease, pronounced 'sandal gap' between big and first toe
    hypotonia
    congenital heart defects (40-50%, see below)
    duodenal atresia
    Hirschsprung's disease

''Cardiac complications''
    multiple cardiac problems may be present
    endocardial cushion defect (c. 40%, also known as atrioventricular septal canal defects)
    ventricular septal defect (c. 30%)
    secundum atrial septal defect (c. 10%)
    tetralogy of Fallot (c. 5%)
    isolated patent ductus arteriosus (c. 5%)

''Later complications''
    subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
    learning difficulties
    short stature
    repeated respiratory infections (+hearing impairment from glue ear)
    acute lymphoblastic leukaemia
    hypothyroidism
    Alzheimer's
    atlantoaxial instability

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