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Samenvatting Overzicht Erfelijke Aandoeningen

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Een uitgebreid, gestructureerd overzicht van de erfelijke aandoeningen en hun kenmerken vermeld in het blokboek van het partim genetica van Cel 4, gedoceerd aan Universiteit Gent door Prof. Menten en Prof. De Baere.

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GENETISCHE AANDOENINGEN
OVERZICHT
Prof. Menten & Prof. De Baere

CEL 4

1

, DEEL 1 – Prof. Menten
Syndroom van Roberts
Symptomen
• Vertraagde groei
• Korte ledematen
• Microcefalie

Oorzaak
Defect in een gen verantwoordelijk voor correcte alignering en cohesie van zusterchromatiden
tijdens S-fase.

Autosomale aneuploïdie algemeen
• Anafase-lagging of non-disjunctie
• Verstoring gen-dosage effect

• Groeiachterstand
• Verstandelijke beperking
• Multipele, milde tot zeer ernstige congenitale afwijkingen

Syndroom van Down of trisomie 21
Vaakst voorkomende chromosomale oorzaak voor een verstandelijke beperking.
Ook al zijn de kenmerken vrij goed te plaatsen, toch kan er fenotypische variabiliteit optreden
(gen-dosage).
Kans op afwijking verhoogt met leeftijd moeder.

Symptomen
• Specifieke faciale dysmorfie (epicanthus plooi, mongloïde oogstand, platte neusbrug)
• Afwijkende vorm van schedel (brachycefalie en vlakke occiput)
• Hypotonie bij geboorte
• Korte nek
• Afwijkende dermatoglyfen van de handen
o Simian Crease in handpalm (1 dwarsplooi in plaats van verschillende (normale)
plooien)
• Hartafwijkingen (1/3)
• 15x verhoogd risico op leukemie
• Verhoogde kans op Alzheimer
• Verstandelijke beperking (IQ 30-60)

Oorzaak
Non-disjunctie of misdeling. Twee homologen van chromosoom 21 komen terecht in 1 gameet.

2

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Institution: Universiteit Gent (UGent)
Study: Geneeskunde
Course: Cel 4 - Mobi & Genetica

Document information

Uploaded on: August 16, 2020
Number of pages: 13
Written in: 2018/2019
Type: SUMMARY

Subjects

genetica
erfelijke aandoeningen
erfelijk
mobi
moleculaire biologie
cel 4
cel iv
cel vier
overzicht
structuur
inhoud
ugent
universiteit gent
samenvatting

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Samenvatting Overzicht Erfelijke Aandoeningen

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