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KaryotypesKaryotypes
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MutationsMutations
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ChromosomeChromosomes & Sexs & Sex
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AllelesAlleles
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Genetic Genetic DisordersDisorders
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Detection & Detection & TreatmentTreatment
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Chromosomes & sex
Genetic
Diseases
Detection & Treatment
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Number of Number of chromosomes chromosomes on a human on a human karyotypekaryotype
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What is 46 or 23 What is 46 or 23 pairs?pairs?
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First 22 pairs First 22 pairs of of
chromosomeschromosomes
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What are What are autosomes?autosomes?
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Last pair of Last pair of chromosomeschromosomes
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What are the What are the sex sex
chromosomes?chromosomes?
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Male sex Male sex chromosomeschromosomes
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What is XY?What is XY?
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Three 21Three 21stst chromosomeschromosomes
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What is trisomy What is trisomy or Down’s or Down’s syndrome?syndrome?
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The result of a The result of a lethal lethal
mutationmutation
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What is death?What is death?
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The loss of a The loss of a piece of piece of
chromosomechromosome
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What is a What is a deletion?deletion?
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Failure of Failure of chromosomes to chromosomes to
separate in separate in meiosismeiosis
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What is What is nondisjunction?nondisjunction?
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Piece of a Piece of a chromosome chromosome
breaks off and breaks off and attaches to attaches to
another another chromosmechromosme
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What is What is translocation?translocation?
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Mutations that Mutations that occur in body occur in body
cellscells
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What are somatic What are somatic cell mutations?cell mutations?
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Number of X Number of X chromosomes in chromosomes in
malesmales
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What is one?What is one?
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Number of X Number of X chromosomes in chromosomes in a normal femalea normal female
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What is two?What is two?
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Sex Sex chromosome(s) chromosome(s) in a person with in a person with Turner syndromeTurner syndrome
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What is only an X What is only an X (XO)?(XO)?
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A trait carried on A trait carried on a sex a sex
chromosomechromosome
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What is sex-What is sex-linked?linked?
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Scientist who Scientist who studied sex-studied sex-
linked traits in linked traits in fruitfliesfruitflies
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Who is Thomas Who is Thomas Hunt Morgan?Hunt Morgan?
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Used to Used to represent the represent the dominant formdominant form
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What is a capital What is a capital letter?letter?
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The number of The number of alleles needed alleles needed
for a traitfor a trait
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What is two?What is two?
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Alleles are the Alleles are the two forms of thistwo forms of this
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What are genes?What are genes?
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Allele that is only Allele that is only expressed in the expressed in the
homozygous homozygous conditioncondition
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What is the What is the recessive allele?recessive allele?
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Mendel called Mendel called alleles thisalleles this
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What are What are factors?factors?
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Prolonged Prolonged bleeding due to a bleeding due to a
lack of clotting lack of clotting factorfactor
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What is What is hemophilia?hemophilia?
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Disorder of red Disorder of red blood cells where blood cells where
they are “C” they are “C” shapedshaped
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What is sickle What is sickle cell disease?cell disease?
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Deterioration of Deterioration of brain tissue that brain tissue that starts at mid-life starts at mid-life and causes deathand causes death
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What is What is Huntington’s Huntington’s
Disease?Disease?
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Disorder where Disorder where mucus clogs the mucus clogs the
lungs and lungs and pancreaspancreas
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What is Cystic What is Cystic fibrous or CF?fibrous or CF?
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Genetic disorder Genetic disorder immediately immediately
screened for in screened for in newbornsnewborns
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What is PKU?What is PKU?
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Doctor’s Doctor’s prescription for a prescription for a
newborn with newborn with PKUPKU
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What is a strict What is a strict diet?diet?
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Taking amniotic Taking amniotic fluid to test for fluid to test for genetic defectsgenetic defects
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What is What is amniocentesis?amniocentesis?
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Health Health professional who professional who determines the determines the
genetic make up genetic make up for couplesfor couples
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Who is a genetic Who is a genetic counselor?counselor?
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Picture of the Picture of the chromosomes on chromosomes on
an individual an individual used in genetic used in genetic
studiesstudies
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What is a What is a karyotype?karyotype?
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The gene for this The gene for this female disorder female disorder
can be can be genetically genetically determined determined before the before the
disease results disease results
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What is breast What is breast cancer?cancer?
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Gene Mutation
s
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Whenever one nucleotide replaces another
