In dit overzicht zijn alle syndromen voor het tentamen Medische Genetica verwerkt. Voor elk syndroom zijn verschillende kenmerken toegevoegd waaronder mutaties die ze veroorzaken, overerving patronen, detectie technieken en overige feiten.
Syndroom Mutatie Overerving Detectietechniek Overig
Unstable repeat X-chromosomaal PCR +
Fragiel X
expansion dominant fragmentanalyse
X-chromosomaal
Duchenne Exon deletie MLPA Groot gen
recessief
Toegankelijk
X-chromosomaal
Hemofilie voor
recessief
gentherapie
Unstable repeat
Autosomaal PCR +
Huntington expansion (>35 Anticipatie
dominant fragmentanalyse
CAG) in HD gen
Grote deletie van
Prader-Willi chromosoom 15 Autosomaal Maternale
SNP-array
of maternale dominant imprinting
UPD
Grote deletie van
Autosomaal Paternale
Angelman chromosoom 15 SNP-array
dominant imprinting
of paternale UPD
Microdeletie van
Autosomaal MLPA/PCR +
Di George chromosoom
dominant frequentieanalyse
22q11
MMR genen
(effect op Autosomaal
Lynch
tumorsupressor dominant
genen)
Heterozygotisch Autosomaal
Li Fraumeni Second hit
defect van p53 dominant
Autosomaal
Retinoblastoom RB1 gen Second hit
dominant
Hereditaire
Autosomaal
borst – en BRCA1/BRCA2
dominant
eierstokkanker
Autosomaal
Tay-Sachs Enzym
recessief
Compound
heterozygoot
CFTR gen Autosomaal (meerdere
Cystic Fibrosis
transport recessief mutaties
geassocieerd
met CF)
Vaak nonsense
Autosomaal PCR + sequentie Compound
Thalassemie mutatie in b- of
recessief HPLC en CE heterozygoot
a-globine genen
Missense
Compound
mutatie in b- Autosomaal
Sikkel cel HPLC en CE heterozygoot
globine (Glu6Val recessief
door big five
(HbS))
NER of
Xenoderma Autosomaal Locus
translesion
Pigmentosum recessief heterogeniteit
synthesis
Non disjunctie in
M1/M2 of
Down Trisomie 21 QF-PCR
Robertsoniaanse
translocatie
Edwards Trisomie 18 “ QF-PCR
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