GENETICS EXAM 1 ESSENTIAL STUDY
QUESTIONS AND ANSWERS
◉ what does a genetic counselor provide?
Answer: non-directive counseling
◉ what are the 2 types of visits for genetic counseling?
Answer: pre-test and post-test (result disclosure)
◉ what is a medical pedigree?
Answer: standardized diagram of family history
◉ what do you need on a medical pedigree?
Answer: 3-4 generations, maternal & paternal history, ancestry
◉ if collecting history quickly, what mnemonic is used?
Answer: SCREEN
◉ what should be documented in the medical record?
Answer: condition, relation to patient, age at onset
,◉ what does SCREEN stand for?
Answer: SC: some concerns
R: reproduction
E: early disease/death/disability
E: ethnicity
N: non-genetic
◉ kindred?
Answer: extended family
◉ proband?
Answer: affected person first identified in family
◉ consultand?
Answer: person seeking genetic evaluation
◉ sibs/sibship?
Answer: brothers and sisters
◉ first degree relatives?
Answer: parents, siblings, children
, ◉ second degree relatives?
Answer: grandparents, grandchildren, aunts/uncles,
nieces/nephews, half-sibs
◉ third degree relatives?
Answer: first cousins
◉ consanguineous?
Answer: partners sharing a common ancestor
◉ which side goes on pedigree?
Answer: left = father; right = mother
◉ arrow on pedigree points to?
Answer: proband
◉ chromosome?
Answer: DNA organized into rod-shaped structures
◉ how many genes in body?
Answer: ~25,000
QUESTIONS AND ANSWERS
◉ what does a genetic counselor provide?
Answer: non-directive counseling
◉ what are the 2 types of visits for genetic counseling?
Answer: pre-test and post-test (result disclosure)
◉ what is a medical pedigree?
Answer: standardized diagram of family history
◉ what do you need on a medical pedigree?
Answer: 3-4 generations, maternal & paternal history, ancestry
◉ if collecting history quickly, what mnemonic is used?
Answer: SCREEN
◉ what should be documented in the medical record?
Answer: condition, relation to patient, age at onset
,◉ what does SCREEN stand for?
Answer: SC: some concerns
R: reproduction
E: early disease/death/disability
E: ethnicity
N: non-genetic
◉ kindred?
Answer: extended family
◉ proband?
Answer: affected person first identified in family
◉ consultand?
Answer: person seeking genetic evaluation
◉ sibs/sibship?
Answer: brothers and sisters
◉ first degree relatives?
Answer: parents, siblings, children
, ◉ second degree relatives?
Answer: grandparents, grandchildren, aunts/uncles,
nieces/nephews, half-sibs
◉ third degree relatives?
Answer: first cousins
◉ consanguineous?
Answer: partners sharing a common ancestor
◉ which side goes on pedigree?
Answer: left = father; right = mother
◉ arrow on pedigree points to?
Answer: proband
◉ chromosome?
Answer: DNA organized into rod-shaped structures
◉ how many genes in body?
Answer: ~25,000
