Snapp question Flashcards
When should patient’s with Turner’s syndrome be transitioned to an adult primary care doctor and adult specialists?
during adolescence
Neonatal diagnosis of Turner’s Syndrome is most often accompanied by anomalies in which organ?
heart
A baby is born with prominent auricles, blue sclerae, and broad, widely spaced nipples. In utero, the baby had cystic hygromas and today you notice residual webbing of the neck. Which of the following is the most likely genetic finding in this patient?
a single X chromosome
Which of the following is included as standard treatment for Gaucher’s disease?
enzyme replacement
What is the most significant disadvantage to utilizing non-viral genetic therapies during the treatment of genetic disease?
expression of gene therapy is very transient
Individuals with Acute Intermittent Porphyria should particularly avoid:
barbiturates
Individuals with a G6PD deficiency should particularly avoid:
anti-malarial drugs
A patient presents with neurologic abnormalities and progressive renal failure. As a child, the patient recalls experiencing pain crises accompanied by an inability to sweat and periodic episodes of heat stroke. Workup of the patient reveals an accumulation of glycosphingolipids in the skin biopsy. Which of the following is the most appropriate treatment for this patient?
enzyme replacemen
Which of the following would NOT be of concern in a patient with Beta-thalassemia major?
HbA2 production
In a 4 year old patient, which of the following should comprise over 95% of hemoglobin content in the blood?
a2B2
Genetic evaluation of patient reveals one normal Beta-globin gene and one mutated Beta-globin gene. Which of the following is the MOST likely finding upon evaluation of your patient?
Low MCV (small RBCs)
Cooley’s anemia can be detected by the absence of which of the following?
HbA
Which of the following is the correct pair of normal genetic variation steps that occur in meiosis?
disjunction during anaphase, recombination during prophase
What type of inversion in this? 46, XX inv(9)(p13q13)
balanced pericentric
What percentage of offspring from an individual whose genotype is i21 will be abnormal?
100%
Genotype for male with fragile X
46, Y fra(X)(q27.3)
What is indicated by a genotype of 46, X i(Xq)?
a female with isochromosome for the long arm of
Two cells derived from two different male patients are cultured in lab and stimulated to undergo meiosis. The first cell, undergoes an error during meiosis 1, the second undergoes an error during meiosis 2. If these cells were used to fertilize genotypically normal female eggs in-vitro, what will be the possible genotypes and phenotypes of their offspring?
Cell 1: 47, XXY infertile, Cell 2: 47, XYY fertile
In the two-hit model of maternal age effect what are considered to be the first and second hits?
diminished recombination cause by a lack of chiasmata or mislocated chiasmata, faulty segregation of chromosomes by oocytes
During adjacent 1 segregation, which of the following correctly describes the fate of homologous centromeres?
they will go to different daughter cells
You are working with genetic material in the lab, and examining cell lines from an unknown genetic origin. Upon analysis of your data you notice that chromosome 3 is duplicated in 100% of your viable cells causing them all to have unbalanced karyotypes. You also notice that you have exactly 50% of the predicted number of daughter cells based on your calculations. Which of the following is the mechanism by which this defect must have occurred in all of your cells?
alternative segregation
A normal healthy parent has a baby with the genotype 47XXY i(Xq). What is the likelihood that a second child will also have an abnormal genotype?
100%
You do a FISH study on a child who presents with severe developmental delays and seizures. He is otherwise phenotypically normal, with normal facial features and no obvious anatomic defects. What is the most likely finding?
IDIC 15 (supernumary marker chromosome)
Besides PWS and Angelman’s, 15q deletions have been associated with with disorder?
autism
Which is the most common mechanism resulting in Angelman’s syndrome?
maternal deletion of 15q11q13
What effect will supplemental growth hormone have on a child with Prader-Willi Syndrome?
increase height, alleviate excessive eating
Sleep apnea is a contraindication to the use of growth hormone in PWS patients. For this reason, treatment with growth hormone should begin:
at onset of excessive eating symptoms onset
An interstitial 15q duplication is found in a FISH study. Without knowing the patient’s symptoms, what can you conclude based on the fact that the methylation tests show the duplication to be paternally derived?
patient will be phenotypically normal
A 4-year-old boy comes to your clinic for an obesity evaluation. He was born at term but his mom noticed minimal movements during pregnancy. He was very floppy when he was born, had undescended testicles and mildly unusual facial features. He had difficulty feeding as an infant but now eats anything and everything in sight without satiety. What do you suspect is his genotype?
15q11-q13 paternal deletion (detected by FISH), normal karyotype
You prescribe felodipine to a hypertensive patient. A few weeks later, the patient develops a sinus infection and drinks a glass of grapefruit juice each morning with the medication you prescribed. What is the most likely outcome regarding the drug’s action?
inhibition of CYP3A metabolism making the patient hypotensive
You know that a patient has decreased levels of CYP2D6. Which of the following drugs is primarily metabolized through different pathways and will be least influenced by the reduced CYP2D6 metabolism?
warfarin
You are studying pharmacogenetics and have a patient that presents to you with disabling back pain. You know from your research that the patient has increased CPY3A4 levels. Which dosage of an active drug metabolized by CYP3A4 is most appropriate for treating her pain?
higher than standard dose
Why is personalized dosing so important when prescribing warfarin?
narrow therapeutic window in individual patients with wide window in populations
Which of the following patients will need a genetic screening before being put on mercaptopurine-based chemotherapy?
acute lymphoblastic leukemia patients
Which of the following mutations to a CYP gene is most likely to result in DECREASED levels of free drug in a patient’s plasma?
increased copy number
Which of the following is most correct regarding CYP2D6?
it is involved in CYP2D6
Which of the following correctly defines pharmacogenetics?
the exam of individuals of alleles and their differences
You want to prescribe rifampicin to a renal transplant patient. Why will you also need to increase his dose of cyclosporin?
rifampicin induces CYP3A to metabolize cyclosporin more quickly
Which of the following best describes the study of differences in drug resistance due to allelic variation in discrete genes affecting drug metabolism, efficacy and toxicity?
pharmacogenetics
Which of the following is correct regarding DNA structure?
46XY, del (4)(p13.3) represents a terminal deletion
Which of the following is a feature of BOTH mitosis and meiosis?
DNA replication during prophase
Recombination is required for which of the following to be successful?
meiosis
Paternally and maternally derived homologous chromosomes synapse along their entire length to form bivalent structures during which phase of meiosis?
prophase I
During mitosis, centromeres on paired sister chromatids segregate from each other during which phase?
anaphase