34: Genetic diseases III Flashcards
x-linked dominant TRE disease
fragile X syndrome
autosomal dominant TRE disease
HD
leading cause of inherited mental impairment and the leading known single-gene cause of ASD
fragile X syndrome
iheritance of fragile X syndrome
X linked dominant inheritance with reduced penetrance
what and where are the repeats in fragile x syndrome
CGG in FMR1 gene
> 200 repeats = clinical disease
expansion from pre- to full mutation only occurs through
female meiosis
an allele in the ________ always changes in size
permutation range
big ears
big upper jaw
big testicles
fragile x syndrome
what is the mutation in HD
autosomal dominant expansion of CAG in the HD gene
intermediate HD repeates
26-36
more likely to expand in offspring
a progressive disorder of motor, cognitive, and psychiatric changes
HD
chromosomal disorder casued by the presence of an extra chromosome 18 due to nodisjunction
edwards syndrome
prevalence of edwards syndrome
1/6000
80% female
prominent occiput
rocker bottom foot
mental retardation
microgonathia
edwards syndrome
extra chromosome 13
patau syndrome
prevalence of patau syndrome
1/15,000
microcephaly
polydactyl
rocker bottom feet
cardiac defect
patau syndrome
monosomy X
turner syndrome
all turner syndrome people are
female
should be noted that 99% are miscarried
and mosaicism is common
webbed neck
puffy hands and feet
low set rotated ears
turner syndrome
short stature
broad webbed neck and broad chest
short 4th metacarpla
adult turner syndrome
“streak ovaries”
turner syndrome
most common identifiable cuase of primary amenorrhea
turner syndrome
47, XXY
klinefelter syndrome
extra X from either father or mother
