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Lecture 1 - Genetic Disorders
Genetic Disorder locations
6
Pathology
Post-Graduate
10/05/2011
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Term
DiGeorge Syndrome
 Definition
22q11 microdeletion (detected by FISH)
Term
Huntingon Disease
 Definition
Gene mutation on chromsome 4p
Term
Prader-Willi syndrome
 Definition
Methylation leading to silencing of paternally derived q12 band on chromosome 15
Term
Angelman syndrome
 Definition
Methylation leading to silencing of maternally derived q12 on chromosome 15
Term
Retinoblastoma
 Definition
RB gene mutation on chromosome 13q14
Term
Wilms tumor
 Definition
Mutation involving WT2 on 11p15.5
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