Shit I don't know Flashcards
epigenetic changes are good for therapeutic potential because
they are erasable
DMD chromosome
Xp21.2
DMD in the the
exon
alpha thal
deletion in a-gene
turners is a
chrom deletion
hereditary neuropathy with liability is a
deletion of gene
charcot marie tooth is
duplication
AML two mutations
- PML RARa (15/17 translocation)
2. ABL1 BCR (9/22 translocation)
DS infants/children have a 20-100 fold risk for ____ and 500 x risk for _____
ALL or AML
AMKL
SMA chrom
5q 13
digeorge chrom
22q
neurofibromatosis type 1 chrom
17q11.2
achondroplasia chrom
4p16.3
1138 nucleotide
PKD1 chrom
16p13.3
PKD2 chrom
4q22.1
huntingtons chrom
4p16.3
fragile X chrom
X q 27.3
hemophilia A chrom
X q 28
hemohilia gene
F8
retinoblastoma chrom
13
retinoblastoma gene
RB1
5% of the time you get repeat in child with no family history of disease is because
one parent is mosaic in gonadal tissue
usually father