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Samenvatting menselijke erfelijkheidsleer P0W79A
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Samenvatting van 54 pagina's voor het vak Menselijke Erfelijkheidsleer aan de KU Leuven (/)
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Menselijke erfelijkheidInhoud
Deel 1: Erfelijkheid ....................................................................................................................... 4
1. Familie-anamnese ........................................................................................................................... 4
1.1. Stamboom ................................................................................................................................ 4
2. Persoonlijke voorgeschiedenis van het kind ................................................................................... 4
3. Klinisch onderzoek........................................................................................................................... 5
3.1. Intelligentie............................................................................................................................... 5
3.1.1. Verstandelijke beperking................................................................................................... 5
3.1.2. Andere ontwikkelingsstoornissen ..................................................................................... 5
3.2. Biometrie .................................................................................................................................. 5
3.3. Neurologisch onderzoek........................................................................................................... 5
3.4. Dysmorfie: ................................................................................................................................ 6
3.5. Opvallend gedrag: gedragsfenotypes ....................................................................................... 6
4. Genetisch-technisch onderzoek ...................................................................................................... 7
4.1. De cel ........................................................................................................................................ 7
4.1.1. Celdeling ............................................................................................................................ 7
4.1.2. Translocatie ....................................................................................................................... 8
4.1.3. Inversie .............................................................................................................................. 8
4.1.4. Duplicatie........................................................................................................................... 8
4.1.5. Deletie ............................................................................................................................... 8
4.1.6. Uniparentele disomie ........................................................................................................ 9
4.1.7. Epigenetica of imprinting .................................................................................................. 9
4.2. Het belang van genetisch onderzoek ....................................................................................... 9
4.3. Klassieke chromosomenonderzoek: chromosomenkaart ...................................................... 10
4.4. Fish-test .................................................................................................................................. 10
4.5. Moleculaire karyotypering ..................................................................................................... 10
4.6. DNA-onderzoek ...................................................................................................................... 11
5. Prenataal onderzoek ..................................................................................................................... 12
5.1. Ontwikkeling van de embryo en foetus ................................................................................. 12
5.2. Risicofactoren op een aangeboren afwijkingen ..................................................................... 12
5.3. Prenatale onderzoekstechnieken ........................................................................................... 13
5.3.1. Intake gesprek ................................................................................................................. 13
1
, 5.3.2. Prenataal onderzoek ....................................................................................................... 13
5.3.2.1. Maternele parameters ............................................................................................. 13
5.3.2.2. Echografie ................................................................................................................. 13
5.3.2.3. Invasieve testen ........................................................................................................ 13
5.3.2.3. Niet-invasieve test (NIPT) ......................................................................................... 14
5.3.2.4. Pre-implantatie-diagnostiek ..................................................................................... 14
6. Predictief onderzoek ..................................................................................................................... 14
6.1. Kinderwens ............................................................................................................................. 14
6.2. Gevolgen van predictief testen .............................................................................................. 14
6.3. Psychologische aspecten ........................................................................................................ 15
6.5. Richtlijnen en principes .......................................................................................................... 16
Deel 2: Overerving ............................................................................................................................ 16
1. Mendeliaanse overerving .............................................................................................................. 16
1.1. Autosomaal dominant ............................................................................................................ 16
1.1.1. Penetrantie ...................................................................................................................... 16
7.1.2. Variabele expressie ......................................................................................................... 17
1.1.3. De novo ........................................................................................................................... 17
1.1.4. Gonadaal mosaïcisme...................................................................................................... 17
1.1.5. Homozygoten .................................................................................................................. 18
1.2. Autosomaal recessief ............................................................................................................. 18
2. Geslachtsgebonden overerving (X-gebonden overerving)............................................................ 19
3. Polygenetische/multifactoriële overerving ................................................................................... 19
Deel 3: Pathologieën .................................................................................................................. 21
Verworven pathologieën ................................................................................................................... 21
1. Foetaal Alcohol Syndroom ........................................................................................................ 21
Genetische aandoeningen ................................................................................................................. 22
1. Geslachtschromosomen ............................................................................................................ 22
1.1. Numerieke afwijkingen....................................................................................................... 22
1.1.1. Syndroom van Turner (meisjes) .................................................................................. 22
1.1.2. Klinefeltersyndroom (jongens) .................................................................................... 24
1.1.3. 47, XYY syndroom – (jongens) ..................................................................................... 25
1.2. Structurele afwijkingen ...................................................................................................... 25
1.2.1. Fragiele X syndroom .................................................................................................... 25
1.2.2. Ziekte van Duchenne ................................................................................................... 26
1.2.3. Hemofilie A .................................................................................................................. 26
2
, 2. Autosomale chromosomen ....................................................................................................... 27
2.1. Numerieke afwijkingen: ..................................................................................................... 27
2.1.1. Downsyndroom ........................................................................................................... 27
2.1.2. Trisomie 13: Syndroom van Patau............................................................................... 30
2.1.3. Trisomie 18: syndroom van Edwards .......................................................................... 31
2.2. Structurele afwijkingen ...................................................................................................... 32
2.2.1. Cri-du-chat syndroom (5p-syndroom)......................................................................... 32
2.2.2. Williams-Beuren syndroom ......................................................................................... 32
2.2.3. Wolf-Hirschorn syndroom ........................................................................................... 34
2.2.4. Velo-cardio-faciaal syndroom = Digeorge syndroom .................................................. 35
2.2.5. 22q11.2 duplicatie ....................................................................................................... 38
2.2.6. Smith-Magenis syndroom ........................................................................................... 39
2.2.7. Ziekte van Huntington ................................................................................................. 41
2.2.8. Ziekte van Steinert (= myotone dystrofie) .................................................................. 41
2.2.9. Familiale borstkanker .................................................................................................. 43
2.2.10. Angelman syndroom (‘puppet children’) .................................................................. 43
2.2.11. Neurofibromatosis type 1 = NF1 = ziekte Von Recklinghausen ................................ 45
2.2.12. Noonan syndroom ..................................................................................................... 47
2.2.13. Cardio Facio Cutaan syndroom ................................................................................. 49
2.2.14. Prader-Willi syndroom .............................................................................................. 50
2.2.15. Kleefstra Syndroom ................................................................................................... 52
Deel 4: de praktijk ...................................................................................................................... 52
1. Onderwijs ...................................................................................................................................... 52
2. Centrum voor menselijke erfelijkheid ........................................................................................... 53
Deel 5: overzicht dominant/recessief en numeriek ...................................................................... 54
3
, Deel 1: Erfelijkheid
1. Familie-anamnese
1.1. Stamboom
- Hoe ver terug gaan: van brussen tot grootouders -> niet altijd haalbaar
- Relevante info: aangeboren aandoeningen, leerstoornissen, (kinder)psychiatrische problemen,
kanker
Let op!
- Er kunnen erfelijke problemen zijn die we niet terugvinden in de stamboom
-> X-gebonden overerving
-> Autosomaal recessieve overerving
-> Chromosomale translocatie
- Familiale problemen zijn niet altijd erfelijk
-> Foetaal Alcohol Syndroom = verworven
2. Persoonlijke voorgeschiedenis van het kind
- Zwangerschap & bevalling: verloop en medische probleem
- Geboorte:
- tijdstip (hoeveel weken)
- geboortegewicht, lengte, hoofdomtrek
- aanpassing na de geboorte
- voedingsproblemen
- uitzonderlijk zuurstoftekort, maar vaak ten onrechte als oorzaak!
- Ontwikkeling van het kind
- Wanneer het eerst iets opgemerkt?
- Tijdstip van mijlpalen (eerste woordjes, stappen, zitten, …) -> boekje van K&G
- Gedragsproblemen
- Medische problemen: aandoeningen, hospitalisaties & operaties
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