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Samenvatting menselijke erfelijkheidsleer
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Samenvatting menselijke erfelijkheidsleerInhoud
Les 1: Inleiding ......................................................................................................................................... 6
............................................................................................................................................................. 6
Familie-anamnese ............................................................................................................................... 8
Persoonlijke voorgeschiedenis ............................................................................................................ 9
Klinisch onderzoek............................................................................................................................. 10
Intelligentie.................................................................................................................................... 10
....................................................................................................................................................... 11
Biometrie ....................................................................................................................................... 11
Neurologische afwijkingen? .......................................................................................................... 11
Dysmorfie ...................................................................................................................................... 12
Opvallend gedrag .......................................................................................................................... 13
Genetisch technisch onderzoek ........................................................................................................ 14
Chromosomenonderzoek .................................................................................................................. 16
Voorbeelden van afwijkend chromosomenonderzoek ................................................................. 19
Chromosomenonderzoek .............................................................................................................. 21
Moleculaire karyotypering :comparative genome hybridisation (=CGH) ..................................... 21
DNA-onderzoek ................................................................................................................................. 23
DNA-diagnose: beperkingen.......................................................................................................... 24
DNA-onderzoek voor het Fragiele X syndroom ............................................................................. 27
Beperkingen van ander DNA-onderzoek ....................................................................................... 27
Nieuwe syndromen: kleefstra syndroom ...................................................................................... 28
Andere bijkomende onderzoeken ..................................................................................................... 29
Belang van genetisch onderzoek ....................................................................................................... 29
Les 2 ....................................................................................................................................................... 31
Chromosomen en chromosomale numerieke afwijkingen ............................................................... 31
Chromosomale afwijkingen: Syndromen en hun implicaties ........................................................ 31
Numerieke afwijkingen ................................................................................................................. 32
Genetische testing (extra info) .......................................................................................................... 48
Les 3 ....................................................................................................................................................... 49
Chromosomale numerieke afwijkingen - geslachtschromosomen ................................................... 49
Syndroom van Turner .................................................................................................................... 49
1
, Motorisch profiel ........................................................................................................................... 53
Sociaal-emotionele ontwikkeling .................................................................................................. 53
Klinefelter syndroom (jongens) ......................................................................................................... 55
47, XYY syndroom .............................................................................................................................. 58
Chromosomale structurele afwijkingen ............................................................................................ 58
Translocatie ................................................................................................................................... 58
Inversie .......................................................................................................................................... 59
Duplicatie....................................................................................................................................... 59
Deletie ........................................................................................................................................... 60
Cri du chat syndroom ........................................................................................................................ 61
Wolf-Hirschhorn syndroom ............................................................................................................... 62
Williams-Beuren syndroom ............................................................................................................... 62
Velo-cardio-faciaal syndroom ........................................................................................................... 64
Smith-magenis syndroom.................................................................................................................. 65
Les 4 ....................................................................................................................................................... 68
Mendeliaanse overerving .................................................................................................................. 68
Autosomaal-dominante overerving .............................................................................................. 68
Autosomaal recessief .................................................................................................................... 76
Recessieve aandoeningen: samenvatting ..................................................................................... 81
Geslachtsgebonden (X-gebonden) ................................................................................................ 82
....................................................................................................................................................... 86
X-gebonden overerving, zeldzame gevallen van aangetaste vrouwen ......................................... 87
....................................................................................................................................................... 92
Geslachtsgebonden aandoeningen: samenvatting ....................................................................... 93
Polygenisch/ multifactorieel aandoeningen ................................................................................. 94
Congenitale polygenische aandoeningen...................................................................................... 94
Polygenische aandoeningen: volwassen leeftijd ........................................................................... 96
Polygenische aandoeningen: samenvatting .................................................................................. 96
Les 5 ....................................................................................................................................................... 97
Complexe overerving (polygenische en multifactoriële aandoeningen) .......................................... 97
Definitie ......................................................................................................................................... 97
Complexe kenmerken en aandoeningen....................................................................................... 97
Polygeen model: 1 gen .................................................................................................................. 98
Polygeen model: 2 genen .............................................................................................................. 99
2
, Polygenisch/multifactorieel ........................................................................................................ 100
Polygenische aandoeningen: samenvatting ................................................................................ 101
Familiale mentale handicap met normaal fenotype ....................................................................... 102
X-gebonden mentale handicap ................................................................................................... 102
Multfactoriële mentale handicap ................................................................................................ 103
PRENATAAL ONDERZOEK ................................................................................................................ 105
Inleiding: ontwikkeling van de embryo en foetus ....................................................................... 105
Risicofactoren op het krijgen van een kind met aangeboren afwijkingen .................................. 106
Prenatale onderzoekstechnieken ................................................................................................ 109
Les 7: Velo cardiofasciaal syndroom ................................................................................................... 123
Inleiding ........................................................................................................................................... 123
22q11 deletie................................................................................................................................... 124
Motoriek ...................................................................................................................................... 126
Taal en spraak .............................................................................................................................. 127
Verstandelijke ontwikkeling en ‘leren’ bij 22q11 DS ................................................................... 127
Gedrag en sociaal functioneren bij 22q11 DS ............................................................................. 130
22q11 duplicatie en de impact op leren en gedrag ........................................................................ 133
Conclusies en besluiten ............................................................................................................... 134
Les 8: Willi syndroom en epigenetica .................................................................................................. 135
Epigenetica ...................................................................................................................................... 135
Het Syndroom van Prader-Willi ....................................................................................................... 135
Inleiding ....................................................................................................................................... 135
Diagnose ...................................................................................................................................... 135
Epigenetica: ................................................................................................................................. 136
Nutritionele fasen........................................................................................................................ 137
Fenomenologie van de psychotische episodes: .......................................................................... 138
Pathophysiology .......................................................................................................................... 139
Les 9: Angelman Syndroom ................................................................................................................. 141
Deel 1:.............................................................................................................................................. 141
Deel 2:.............................................................................................................................................. 142
Geschiedenis................................................................................................................................ 142
Genetische achtergrond .............................................................................................................. 142
Klinische kenmerken ................................................................................................................... 144
Medische aandachtspunten bij personen met het Angelman Syndroom .................................. 146
3
, Les 9: Williams Beuren Syndroom ....................................................................................................... 147
Klinische kenmerken ....................................................................................................................... 147
Genetica bij Williams-Beuren Syndroom ........................................................................................ 148
Geschiedenis: van een klinisch syndroom naar een microdeletie syndroom ............................. 149
Hoe ontstaan de deletie? ............................................................................................................ 149
Welke genen? .............................................................................................................................. 151
Relatie genen en kliniek .................................................................................................................. 151
Gedragskenmerken ......................................................................................................................... 151
Les 10: Predictieve testing en ziekte van Huntington ......................................................................... 153
Predictieve genetische testing ........................................................................................................ 153
Ziekte van Huntington ..................................................................................................................... 153
Genetica: DNA-fouten ................................................................................................................. 154
Effect op de Basale ganglia .......................................................................................................... 154
DNA-repeats ................................................................................................................................ 154
Klinische symptomen .................................................................................................................. 155
De genetische raadpleging voor families met de ziekte van Huntington ................................... 155
Kinderwens .................................................................................................................................. 157
Impact op het welbevinden: wetenschappelijke studies ............................................................ 158
De raadpleging in UZ Gasthuisberg ............................................................................................. 159
Les 11: predictief testen ...................................................................................................................... 160
Inleiding ........................................................................................................................................... 160
Prenataal genetisch onderzoek ....................................................................................................... 160
Postnataal genetisch onderzoek (kinderen en volwassenen) ......................................................... 161
Predictief genetisch onderzoek (kinderen) volwassenen ............................................................... 162
Genetica in de gezondheidszorg ................................................................................................. 162
Predictief testen – overzicht ....................................................................................................... 163
Gevolgen van predictief testen ................................................................................................... 165
Hoe verloopt predictief testen? .................................................................................................. 165
Predictief testen van minderjarige .............................................................................................. 166
Psychologische aspecten van predictief testen: voorbeelden .................................................... 166
Neurofibromatose type 1 (NF1) en andere rasopathieën................................................................... 179
Wat is neurofibromatose type 1? ................................................................................................... 179
Wat zijn RAS-opathieën? ................................................................................................................. 179
Neurofibromatosis Type 1 = RAS-opathie ................................................................................... 179
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