<<forEachTiddler where 'tiddler.tags.contains(context.inTiddler.title)'
sortBy
tiddler.title
ascending
write '"*[["+tiddler.title+"]]\n"'>>
<<tiddler AutoRefresh with: force>>
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