Chapter 6 Flashcards
What is a pictorial representation of familial history?
pedigree
What is the first affected family member coming to attention of the geneticist
proband
What is mating between closely related people referred to as?
consanguinity
What are individuals whose heterozygous genotype can be definitely determined from the pedigree referred to as?
obligate carriers
What are organisms with different genetic constitutions in different cells referred to as?
genetic mosaics or chimeras
What word means nonidentical twins formed from two separate eggs fertilized by two different sperm
dizygotic twins
What word means identical twins resulting from a single egg fertilized by a single sperm splitting early in development
monozygotic twins
What is the percentage of twin pairs that both have a trait
concordance
What is the field that provides information to patients with genetic disorders and others who are concerned about hereditary conditions?
Genetic Counseling
What visualization technique uses high-frequency sound waves beamed into the uterus and bounced back by dense tissue?
ultrasonography
What test sees the operator obtain a sample of the amniotic fluid for genetic testing?
amniocentesis
What test can be performed earlier than amniocentesis and sees a large amount of fetal tissue from the placenta
chorionic villus sampling
What is a picture of a complete set of metaphase chromosomes?
karyotype
Test that takes samples from the mother to determine risk for genetic problems
Maternal blood screening tests
Example of proteins that appears in maternal blood
a-fetoprotein, human chorionic gonadotropin, and pregnancy-associated plasma protein A
tests that are noninvasive and pose no risk to the fetus
noninvasive prenatal screening
A genetic testing to prevent transfer of certain genetic defects after in vitro fertilization
preimplantation genetic diagnosis
What is testing for genetic disorders in newborn infants referred to as?
newborn screening
What is the test for healthy adults for genes that may predispose them to a genetic condition?
presymptomatic genetic testing
What is a form of genetic testing that allows members of a population are tested to identify heterozygous carriers for a recessive disease?
heterozygote screening
What are tests that are provided to consumers without the involvement of a health-care provider
direct-to-consumer genetic tests
What was the legislation that prohibits health insurers from using genetic information to make decisions about health-insurance coverage and rates and employers from factoring it in.
Genetic Information nondiscrimination Act
