aneuploidy Flashcards
Hw much of your DNA holds instructions for making proteins
1 percent
part of DNA with instruction for proteins
genes
ow many genes in the body
20 thousand
about how many unique proteins can be made
80,000 to 100,000 unique ones can be made
all 20 thousand genes are found on what
chromosomes
what is a chromosome
a tighly wound chunk of DNA
almost every human has how many chromosomes
46
23 chromosomes are inherited from where
the mother’s egg
the other 23 chromosomes come from where
the father’s sperm
what is the ‘n’ number of chrosomes for humans
23
are the numbers 23 and 46 the same for all organisms
no
n
the nuber of chromosomes inherited from one parent
in most animal species organisms have how many n
2n ( one from dad one from mom
karyotype
a map of all chromosomes sorted by size
how are chromosomes numbered
1-22, X or Y
what are chromosomes 1-22 called
autosomes
the x and y chromosomes are called what
allosomes
biggest autosomes
1
smallest autosomes
22
male
XY
females
XX
what is aneuploidy
when an organism does not have 2n chromosomes
a triplet of one chromosome
trisomy
only one copy f one chromosome
monosomy
zero copies of one chromosome
Nulisomy
four copies of one chromosome
Tetrasomy
Multiple of copies of all chromosomes
polyploidy
examples for polyploidy
3n, 4n, 10n etc
Robertsonian Translocation
look at assignment 1
does the body need to have a certain number of each protein inside
YES
what happens when one extra copy of a chromosome exists (trisomy)
the gene on the chromosome are transcribed and translated 1.5 times faster than they should be (3 chances instead of 2)
what happens with too much protein
processes can go awry
what will happen with monosomy
proteins are only made at 50% of the rate they should be
are most aneuploidies survivable
NO
what will happen to all embryos with nullisomy early in development
they will miscarry in earl development
are monosomies unsurvivable
yes, with two exceptions
exceptions to surviving monosomies
turner syndrome, cri du chat syndrome
what is considered the only true monosomy that is survivable
turner syndrome
what happens in turner syndrome
there is one X chromosome, and no Y chromosome
results of turner syndrome
short stature, typically infertility, webbed neck, typically normal intelligence
another name for cri du chat syndrome
5p minue syndrome
5th chrmosome minus 1 p arm
is cri du chat syndrome a true monosomy
no
what is missing in cri du chat syndrome
a portion of the short (p) arm of the 5th chromosome is missing
results of cri du chat syndrome
delayed development, mental retardation, heart defects, “cat-like cry”
exceptions to trisomies
- patau syndrome
- edwards syndrome
- down syndrome
pateau syndrome is a
trisomy 13
result of pateau syndrome
live birth achievable, death within 6 months
edwards syndrome is a
trisomy 18
result of edwards sydrome
live birth achievable, death within 6 months
down syndrome is a
trisomy 21
results of dow syndrome
mental impairment, flattened nose and slanted eyes, heart defects
which chromosomes are the least sensitive to abnormalities
sex chromosomes
examples of abnormalities from XX/XY that are seen in humans
XXX XXY XYY XXXX XXXY XXXXY
XXX
Triple X syndrome
XXY
Klinefelter syndrome
XYY
Jacob’s syndrome
the XX/XY abnormalities are usually
survivable and do not have many effects on the person, but usually sterility
