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Samenvatting Menselijke Erfelijkheidsleer
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Dit is een samenvatting van alle lessen van het vak Menselijke Erfelijkheidsleer.
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MENSELIJKEERFELIJKHEIDSLEER
Melissa Amandels
AJ 2021-2022
,Inhoudsopgave
Menselijke erfelijkheidsleer/genetica – inleiding ............................................................................................ 5
Overzicht lessen .................................................................................................................................................. 5
1 – Inleiding genetica ...................................................................................................................................... 5
Oorzaken van een verstandelijke beperking ....................................................................................................... 5
Overzicht; hoe wordt een raadpleging uitgevoerd in de genetica? .................................................................... 6
Familie-anamnese (1) .................................................................................................................................... 6
Persoonlijke voorgeschiedenis (2) ................................................................................................................. 7
Klinisch onderzoek (3) .................................................................................................................................... 7
Technisch onderzoek (4) .............................................................................................................................. 11
Andere bijkomende onderzoeken (5) .......................................................................................................... 18
Belang van genetisch onderzoek (6) ............................................................................................................ 19
2 – Chromosomale numerieke afwijkingen: Autosomen ............................................................................... 21
Ouderdomsziekten bij verstandelijke beperking (algemeen) ............................................................................ 21
Chromosomale afwijkingen: Syndromen en hun implicaties ............................................................................ 21
Numerieke afwijkingen ................................................................................................................................ 22
Down – syndroom ........................................................................................................................................ 25
Aanbevelingen ............................................................................................................................................. 30
Trisomie 18 .................................................................................................................................................. 30
Trisomie 13 .................................................................................................................................................. 30
EXTRA LES 2 – Genetische testing ................................................................................................................. 32
Welke genetische test aanvragen? ................................................................................................................... 32
Praktisch: welke genetische test aanvragen? .............................................................................................. 33
Welke weefsels kunnen onderzocht worden?............................................................................................. 33
3 – Chromosomale numerieke afwijkingen: Geslachtschromosomen ............................................................ 34
Chromosomale afwijkingen .............................................................................................................................. 34
Syndroom van Turner .................................................................................................................................. 34
Klinefelter syndroom = 47, XXY.................................................................................................................... 37
47,XYY syndroom ......................................................................................................................................... 39
Chromosomale structurele afwijkingen ............................................................................................................ 40
Translocatie ................................................................................................................................................. 40
Inversie ........................................................................................................................................................ 40
Duplicatie ..................................................................................................................................................... 41
Deletie.......................................................................................................................................................... 41
Deletie syndromen die zichtbaar zijn........................................................................................................... 41
4 – Mendeliaanse overerving ........................................................................................................................ 48
Autosomale dominante overerving .................................................................................................................. 48
Stamboom tekenen en een patroon kan al herkend worden! .................................................................... 48
Dominante kenmerken ................................................................................................................................ 48
Voorbeeld dominante overerving ................................................................................................................ 48
Autosomale dominante overerving bij dynamische muties - trinucleotide repeats ................................... 49
Autosomaal dominant: bijzondere vormen ................................................................................................. 54
Dominante aandoeningen: samenvatting ................................................................................................... 57
Autosomaal recessief ........................................................................................................................................ 58
Recessieve kenmerken ................................................................................................................................ 58
1
, Mucoviscidose (cystic fibrosis)..................................................................................................................... 59
Stofwisselingsziekten ................................................................................................................................... 60
Congenitale doofheid .................................................................................................................................. 61
Recessieve aandoeningen: samenvatting .................................................................................................... 61
Geslachtsgebonden overerving/ X-gebonden overerving ................................................................................. 63
Kleurenblindheid.......................................................................................................................................... 63
Spierziekte van duchenne ............................................................................................................................ 64
Hemofilie A .................................................................................................................................................. 64
X-gebonden overerving: zeldzame gevallen van aangetaste vrouwen ........................................................ 65
Fragiele x-syndroom .................................................................................................................................... 65
Geslachtsgebonden aandoening: samenvatting .......................................................................................... 70
Polygenische aandoeningen ............................................................................................................................. 70
Polygenisch/ multifactorieel ........................................................................................................................ 70
Congenitale polygenische aandoeningen .................................................................................................... 71
Polygenische aandoeningen: volwassen leeftijd ......................................................................................... 72
Polygenische aandoeningen: samenvatting ................................................................................................ 72
5 – Angelman syndroom ............................................................................................................................... 73
Geschiedenis ..................................................................................................................................................... 73
Genetische achtergrond ................................................................................................................................... 73
1/Deletie Chromosoom 15q11 (Materneel of moederlijk): bij 70% ............................................................ 73
2/UPD: uniparentele disomie (pat) (2 chromosomen 15 zijn afkomstig van één ouder) bij 7%.................. 74
3/Imprinting center defect: bij 3% ............................................................................................................... 74
4/UBE3A mutatie: bij 10% ........................................................................................................................... 75
Overzicht genetische achtergrond ............................................................................................................... 75
Klinische kenmerken ......................................................................................................................................... 76
Klinische kenmerken; Deletie chromosoom 15 (70%) ................................................................................. 76
Klinische kenmerken; UPD: uniparentele disomie (pat) (7%) ...................................................................... 76
Klinische kenmerken; Imprinting center defect (3%) .................................................................................. 77
Klinische kenmerken; UBE3A mutatie (10%) ............................................................................................... 77
Differentiaal diagnose.................................................................................................................................. 77
Medische aandachtspunten bij personen met het Angelman syndroom ......................................................... 77
Medische aandachtspunten ........................................................................................................................ 77
Gedragsproblemen ...................................................................................................................................... 77
6 – Williams-Beuren syndroom ..................................................................................................................... 79
Voorkomen ....................................................................................................................................................... 79
Genetica............................................................................................................................................................ 79
Overzicht ........................................................................................................................................................... 79
Klinische kenmerken .................................................................................................................................... 79
Genetica bij Williams-Beuren syndroom ..................................................................................................... 80
Relatie van de genen tot de kliniek.............................................................................................................. 86
Gedragskenmerken...................................................................................................................................... 86
7 – De betekenis van een genetische diagnose voor de ontwikkeling, het leren en de sociale ontwikkeling van
kinderen en jongeren (een illustratie adhv 22q11 deletie – duplicatie syndroom) ......................................... 88
Multidisciplinaire werking ................................................................................................................................ 88
Factoren van invloed op de ontwikkeling .................................................................................................... 88
22q11 deletie (22q11 ds) en 22q11 duplicatie (22q11 dup)en impact op leren en gedrag .............................. 88
Genomic disorders on chromosoom 22q11 ................................................................................................ 89
422q11 deletie (22q11 ds) ........................................................................................................................... 89
2
, Klinisch beeld .................................................................................................................................................... 91
Motorische ontwikkeling bij 22q11 ds ......................................................................................................... 91
Taal en spraak .............................................................................................................................................. 92
Verstandelijke ontwikkeling en “leren” bij 22q11 ds ................................................................................... 93
Visuele perceptuele verwerking en visueel-ruimtelijk inzicht zijn belangrijk .............................................. 94
Problemen met voorbereidende rekenvaardigheden ................................................................................. 96
Gedrag en sociaal functioneren bij 22q11 ds .............................................................................................. 98
Verhoogd risico op het ontwikkelen van ernstige psychiatrische problemen bij volwassenen met 22q11ds . 100
22q11 duplicatie en de impact op leren en gedrag ........................................................................................ 101
Algemeen besluit ............................................................................................................................................ 103
8 – Complexe kenmerken en aandoeningen................................................................................................ 104
Polygenische en multifactoriele aandoeningen .............................................................................................. 104
Definitie ..................................................................................................................................................... 104
Polygeen model: 1 gen .............................................................................................................................. 105
Polygeen model: 2 genen .......................................................................................................................... 105
Congenitale polygenische aandoeningen .................................................................................................. 106
Polygenische aandoeningen volwassen leeftijd ........................................................................................ 108
Polygenische aandoeningen: samenvatting .............................................................................................. 109
Familiale mentale handicap met normaal fenotype ....................................................................................... 109
X – gebonden mentale handicap ............................................................................................................... 109
Multifactoriële mentale handicap ............................................................................................................. 110
Andere ontwikkelingsstoornissen ................................................................................................................... 111
Autisme ...................................................................................................................................................... 111
9 – Prenataal onderzoek ............................................................................................................................. 112
Prenataal genetisch onderzoek (ongeboren kind) .......................................................................................... 112
Inleiding: ontwikkeling van de embryo en foetus ...................................................................................... 112
Risicofactoren op het krijgen van een kind met aangeboren afwijkingen................................................. 113
Prenatale genetische onderzoekstechnieken ............................................................................................ 115
Prenataal onderzoek, genetisch onderzoek............................................................................................... 117
10 – Neurofibromatose Type 1 (NF1) en andere rasopathieën (les van 30/11) ............................................ 130
Wat is Neurofibromatose type 1? ................................................................................................................... 130
Definitie ..................................................................................................................................................... 130
Wat zijn RAS-opathieën? ........................................................................................................................... 130
Wat is Neurofibromatose type 1?.............................................................................................................. 132
Fenotype FN1 .................................................................................................................................................. 132
1: Medisch ................................................................................................................................................. 132
2: Cognitief ................................................................................................................................................. 135
3: Gedragsmatig ......................................................................................................................................... 138
Andere RAS-opathieën .................................................................................................................................... 145
Noonan syndroom ..................................................................................................................................... 146
Een andere ras-opathie: CFC syndroom .................................................................................................... 148
Een andere ras-opathie: Costello syndroom ............................................................................................. 150
Een andere ras-opathie: Legius syndroom ................................................................................................ 150
11 – Epigenetica (les 7/11) .......................................................................................................................... 151
Definitie .......................................................................................................................................................... 151
Het syndroom van Prader-Willie ..................................................................................................................... 151
Nutritionele fasen ........................................................................................................................................... 154
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