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2.1.1 Chronicles of a Genetic Counselor
Terms in this set (45)
can help a family help a family understand the risks of having a child with a genetic disorder, the medical facts about an already diagnosed condition, and other information necessary for a person or a couple to make decisions suitable to their cultural, religious and moral beliefs.
is the use of molecular methods to determine if someone has a genetic disorder, will develop one, or is a carrier of a genetic illness.
is a disease caused by abnormalities in an individual's genetic material
environmental and genetic factors
play a role in the development of disease
disorders that are caused by changes or mutations that occur in the DNA sequence of one gene
a segment of DNA that contains instructions for the production of a protein
diseases and disorders
result when a gene is mutated resulting in a protein product that can no longer carry out its normal job
looks at genotype to determine if someone has a genetic disorder, will develop one, or is a carrier
are caused by a combination of environmental factors and mutations in multiple genes
many of the most common chronic illnesses are
Humans have how many chromosomes?
humans have how many autosomes?
humans have how many sex chromosomes?
problems arise when there are missing or extra copies of genes, or breaks, deletions or rejoining of chromosomes
pictures of the paired chromosomes of an individual are important in diagnosing chromosomal disorders
the organelles in your cells that convert energy, also contain DNA
a relatively rare type of genetic disorder is caused by mutations in nonchromosomal DNA of mitochondria
mother to child
mitochondrial DNA is unique in that it is passed solely from
determines whether an individual carries a copy of an altered gene for a particular recessive disease even though they do not show the trait phenotypically.
is often used if a particular disease is common in a couple's ethnic background or if there is a family history of the disease
example of carrier tests
example of carrier tests
sickle cell disease
Preimplantation Genetic Diagnosis
what does PGD stand for?
is used following in vitro fertilization to diagnose a genetic disease or condition before the embryo is implanted in the uterus
a single cell
is removed from an embryo and examined for chromosome abnormalities or genetic changes
allows parents to diagnose a genetic condition in their developing fetus
the most widespread type of genetic screening
is used to detect genetic or metabolic conditions for which early diagnosis and treatment are available
4 to over 30 genetic disorders
state tests for newborns typically screen anywhere from
the goal is to identify affected newborns quickly in order to provide quick treatment and care
leber hereditary optic neuropathy
the analysis of a neonate's blood for metabolic or genetic disorders to prevent mental retardation, disability or death
Indiscriminate examination of members of a population to detect heterozygotes for serious disorders
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