NMNC 1210 - GENETICS AND GENOMICS QUESTIONS
AND ANSWERS 100% CORRECT.
100% Correct 38
Incorrect 0
1 of 38
Term
What are the guidelines for chromosome analysis specimen
collection?
Give this one a try later!
- Autosomal recessive - The sample needs to
- Occurs when the CFTR channel have live cells
does not move sodium and chloride - Cells can come
ions properly from amniotic fluid or
tissue
They are typically:
1. Present and detectable at - An extra copy of chromosome
birth 21 (a.k.a trisomy 21)
2.Isolated defects rather than - 3 copies of this chromosome
ones that occur with other instead of 2
unrelated abnormalities
Don't know?
,2 of 38
Definition
- Pregnant women < 35 y.o
- Carriers of autosomal recessive disorders
- Carriers of X-linked disorders
- Couples closely related by blood
- Pregnant women with abnormal screening results
- Pregnant women exposed to teratogens
- Family hx of genetic disorders/defects
Give this one a try later!
What happens if a person has What is the Genetic
a mutated BRCA1 or BRCA2 Information Nondiscrimination
gene? Act (GINA)?
Who may be referred
Who is at higher risk for CF? for
genetic
counseling?
Don't know?
3 of 38
Term
What are multifactorial genetic disorders?
Give this one a try later!
, - Frequent cough
- Excess sputum
- Recurrent respiratory problems
- Weight loss
- Altered reproductive system
- Steatorrhea (fat in stool)
- Interactions between an individual's genetic susceptibility
and environmental factors
- Ex: Heart disease, diabetes, most cancers
- Maternal infection (rubella, syphilis, etc)
- Drugs/alcohol
- Pollutants/chemicals
- Radiation
- Maternal hyperthermia (hot tubs, saunas)
- Maternal disorders (diabetes)
- Mutation in 2 recessive gene pairs (homozygous) on a chromosome (aa)
- Two copies of a defective gene must be present for it to be expressed.
Don't know?
4 of 38
Term
What is the karyotyping for a person with Down syndrome?
Give this one a try later!
- The sample needs to have live cells
- Cells can come from amniotic fluid or tissue
AND ANSWERS 100% CORRECT.
100% Correct 38
Incorrect 0
1 of 38
Term
What are the guidelines for chromosome analysis specimen
collection?
Give this one a try later!
- Autosomal recessive - The sample needs to
- Occurs when the CFTR channel have live cells
does not move sodium and chloride - Cells can come
ions properly from amniotic fluid or
tissue
They are typically:
1. Present and detectable at - An extra copy of chromosome
birth 21 (a.k.a trisomy 21)
2.Isolated defects rather than - 3 copies of this chromosome
ones that occur with other instead of 2
unrelated abnormalities
Don't know?
,2 of 38
Definition
- Pregnant women < 35 y.o
- Carriers of autosomal recessive disorders
- Carriers of X-linked disorders
- Couples closely related by blood
- Pregnant women with abnormal screening results
- Pregnant women exposed to teratogens
- Family hx of genetic disorders/defects
Give this one a try later!
What happens if a person has What is the Genetic
a mutated BRCA1 or BRCA2 Information Nondiscrimination
gene? Act (GINA)?
Who may be referred
Who is at higher risk for CF? for
genetic
counseling?
Don't know?
3 of 38
Term
What are multifactorial genetic disorders?
Give this one a try later!
, - Frequent cough
- Excess sputum
- Recurrent respiratory problems
- Weight loss
- Altered reproductive system
- Steatorrhea (fat in stool)
- Interactions between an individual's genetic susceptibility
and environmental factors
- Ex: Heart disease, diabetes, most cancers
- Maternal infection (rubella, syphilis, etc)
- Drugs/alcohol
- Pollutants/chemicals
- Radiation
- Maternal hyperthermia (hot tubs, saunas)
- Maternal disorders (diabetes)
- Mutation in 2 recessive gene pairs (homozygous) on a chromosome (aa)
- Two copies of a defective gene must be present for it to be expressed.
Don't know?
4 of 38
Term
What is the karyotyping for a person with Down syndrome?
Give this one a try later!
- The sample needs to have live cells
- Cells can come from amniotic fluid or tissue
