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Flashcards Menselijke Erfelijkheidsleer (aandoeningen)
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Syndroom van Klinefelter - Gedragsfenotype
Syndroom van Klinefelter - Gedragsfenotype
Cognitief (leerproblemen 44% van de patiënten) - Linguïstisch (vertraagde spraakontwikkeling 50% van de patiënten) - Motorisch (motorische problemen 30% van de patiënten) - Sociaal-emotioneel (passief, antisociaal en psychiatrische stoornissen (heel variabel beeld))
Ziekte van Huntington - Klinische kenmerken
Ziekte van Huntington - Klinische kenmerken
Dementie - onwillekeurige bewegingen - slikproblemen - loopproblemen - spraakproblemen
Ziekte van Steinert - Types
Ziekte van Steinert - Types
Type 1 (= milde vorm: na 50j, cataract en lichte spierklachten) - Type 2 (= volwassen vorm: 18-50j, initiatiefarmoede en slaapproblemen) - Type 3 (= Kindervorm: 1-18j, cognitieve beperkingen en spraakproblemen) - Type 4 (= congenitale vorm: baby, ernstige verstandelijke beperking en fysieke handicap)
Mucoviscidose - Klinische kenmerken
Mucoviscidose - Klinische kenmerken
Taaislijmziekte, taai slijm op de longen, lost niet bij hoesten, tekort aan spijsverteringsenzymen
CFC-syndroom (cardio-faciaal-cutaan) - genetica
CFC-syndroom (cardio-faciaal-cutaan) - genetica
Meerdere genen spelen een rol, dus polygeen
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