Summary
Samenvatting menselijke erfelijkheidsleer P0W79A
- Course
- Institution
Samenvatting van 54 pagina's voor het vak Menselijke Erfelijkheidsleer aan de KU Leuven (/)
[Show more]
Seller
Follow
elkewertelaers
Content preview
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
4
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller elkewertelaers. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $11.26. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
52510 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now