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Practice board exam questions
Terms in this set (41)
Haploinsufficiency best explains which of the following conditions:
a. Beta thalassemia
b. Sickle cell anemia
c. Familial hypercholesterolemia
d. Testicular feminization
c. Familial hypercholesterolemia
If an AR condition has a gene frequency of 1 in 20, what is the incidence?
If an AR condition has a gene frequency of 1 in 20, the probability of being a heterozygote is ___
1 in 10
One member of a couple of Northern European descent is a known carrier of CF. The couple are also first cousins. What is the chance that they will have a child affected with CF? (If the gene freq is 1/20)
What is the chance that a man whose sibling died of CF and is found to have a deltaF508 mutation and a Caucasian woman (with a negative family history of CF) will have a child with CF?
A 65 year old woman with colon cancer has IHC that shows absence of MLH1 and PMS2. BRAF testing is positive for he presence of V600E. What test should be done next?
No further testing indicated (sporadic cancer indicated).
What is the serum marker pattern characteristic of impending fetal demise?
High AFP, high hCG, low estriol, high inhibin
AFP: leaking from the placenta.
Estriol is made by fetal adrenals.
A patient's father was a carrier for alpha thalassemia. What is the best test to detect the majority of alpha globin gene mutations?
Deletion testing. These make up about 90% of alpha globin mutations.
-Electrophoresis will be normal
Optic glioma is most commonly found in which of the following?
Which of the following has been associated with sex reversal?
-Achondrogenesis type 1A
T/F: Most cases of Turner syndrome result from maternal nondisjunction
F. These are most often due to paternal nondisjunction (sperm without an X)
All of the following are common features of Smith Magenis syndrome EXCEPT
a. mental retardation
b. Self-destructive behavior
d. non-visible cytogenic deletion
d. non-visible cytogenic deletion
-could do chromosomes
All of the following sex ratios are correct except
a. pyloric stenosis: males>females
b. Legg Perthes: males>females
c. congenital hip dysplasia: males>females
d. Hirschprung disease: males>females
c. congenital hip dysplasia more commonly affects females.
Which serum marker has the highest predictive value for SLOS?
Also low in trisomy 18.
In which disorder should you consider offering EPCAM exon 9 deletion testing?
A woman reports having one brother with DMD. What is the chance she could have an affected child?
1/3 chance she's a carrier (2/3 de novo)
1/2 chance of passing it on
1/2 chance of a male
Monozygous twin females have the greatest likelihood for an extremely discordant phenotype for:
b. polyposis of the colon
c. Hurler syndrome
d. Duchenne dystrophy
Duchenne dystrophy-because of X inactivation.
Choose the correct order of reproductive fitness from greatest to least for HD, TS (tuberous sclerosis), NF1, and OI type II
TS: MR frequent
A newborn infant has extreme hypertelorism, microcephaly, midline cleft, poor temperature regulation, seizures, and no anomalies below the neck. The most likely diagnosis is:
The onset of HD at age 8, presenting with rigidity is indicative of:
a. maternal inheritance of the CAG repeat expansion
b. paternal inheritance of CAG
A newborn has microcephaly, hypotelorism, microphthalmia, cutis aplasia of the scalp, and postaxial polydactyly. The genetic mechanism most likely responsible for this condition is
a. triplet repeat expansion
b. single base pair mutation
c. maternal non-disjunction
d. abnormal methylation
c. maternal nondisjunction
The probability that a screening test is positive given that the person has the condition is the definition of:
d. false positive
(PPV: if you test +, the chance that you are actually affected)
All of the following are potential causes of an initial high maternal serum AFP EXCEPT:
a. pregnancy is further along than predicted by LMP
b. multiple gestation
c. fetal demise
d. maternal weight is underestimated
e. Finnish nephrosis
Not a, b, or c.
d or e?
Match the following situations w/ a karyotype:
1. Has a less than 5% risk of producing a chromosomally unbalanced live offspring.
2. Will usually die in utero.
3. Has Down syndrome.
4. Has a greater than 25% risk of producing a chromosomally unbalanced liveborn offspring.
5. Has around a 10% risk for producing chromosomally unbalanced live offspring.
1. d -most common translocation observed. T13 or 14 will miscarry.
4. c -100% chance (Rob translocation)
5. b -balanced trans. carrier. Matters that its a female.
If pyloric stenosis has a multifactorial threshold model showing a higher risk threshold for females, then you would predict the lowest risk for:
a. male relative of a male patient
b. female relative of a male patient
c. male relative of a female patient
d. female relative of a female patient
b. female relative of a male patient.
Which of the following statements about maternal PKU syndrome is FALSE?
a. affected children may have low birth weight.
b. it results from untreated PKU in mothers during pregnancy.
c. is principally in fetuses who also have PKU.
d. affected kids may have severe heart defects.
GINA protects from discrimination in which of the following scenarios?
a. Woman with breast cancer learns she has a pathogenic BRCA1/2 mutation and is now protected from increases in health insurance premiums.
b. Pilots in the Airforce can have presymptomatic testing for HD without fear of employment discrimination.
c. A man undergoing presymptomatic VHL testing for a familial mutation is protected from health insurance premium increases, regardless of the result.
d. Asx woman who learns she has a BRCA1 mutation can't be excluded from obtaining life insurance.
Which of the following techniques can be used to determine CNVs?
a. Single nucleotide extension (SNE) and MLPA
b. Genomic microarray (GMA) and PCR
c. PCR and SNE
d. MLPA and GMA
d. MLPA and GMA
Which of the following isn't true about Down syndrome?
a. Most ppl with DS are born to women under age 35.
b. DS is the most common autosomal trisomy in humans.
c. Nondisjunction in humans occurs most commonly with the 21st chromosome.
d. Kids with DS usually have 47 chromos.
Which technique does this illustrate?
"That must have been a painful experience for you"
"Do you think you're father's working long hours could be because he's worried about the financial aspects of your mother's illness?" -which technique?
"I sense some tension between the two of you. Could we talk about what's going on?"
Immediacy (happening currently)
"I have the same reactino when somebody tells me I can't do something!"
"So your younger sister experienced severe depression when your mom died. Poor thing!"
I have had many ppl tell me that they feel a sense of guilt about the amount of time they could spend with a loved one with cancer.
You mentioned that you and your sis are close, and you sound worried about her reaction if your test is negative. Could it be that you think a normal result will interfere with your bond with your sister?
You've done a lot to rearrange your life so that you can spend time with your mom. What a strong example you are setting for your daughter!
Unconditional positive regard
You said that you're ready for testing, yet earlier you mentioned that you are terrified of the result. Can we talk a little about what you would do if you found out that you have the mutation?
Sometimes peopel feel anxious about their own health after a positive result. Lets go over the things you can do to take care of yourself if that happens.
An 18 wk gestation U/S shows shortening of all the long bones <<5th percentile. The fetal head circumference is 95th centile. Which is the most likely diagnosis?
Not achondro b/c bones are closer to normal (esp this early in gestation)
A newborn has hydrocephalus, spina bifida, and club feet. This is likely:
a. a multiple congenital anomaly syndrome
b. a single primary malformation
c. a probable teratogenic syndrome
d. a probable chromosome anomaly
e. an association
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