<<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