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Dr. Urbans Exam
Terms in this set (75)
because yellow is dominant over green
A 5-month-old infant presents with failure to thrive. The mother states the child eats well but is not gaining any weight. Past medical history is remarkable for a meconium ileus at birth. Which of the following is the most likely diagnosis?
Di George syndrome 22q11.2 deletion
A cause of genetic hypocalcemia in a newborn is ___.
A patient (age 41) presents with jerky, random, and uncontrollable movements or chorea, Psychomotor functions have become increasingly impaired over the past few years, such that any action that requires muscle control is affected. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowing and speaking. The patient has one parent who died at 44 after exhibiting similar symptoms. This patient may be exhibiting symptons of
. Beta thalassemia
A patient presents with fatigue. Laboratory evaluation reveals a microcytic hypochromic anemia. Peripheral smear reveals microcytes, basophilic stippling, and target cells. Hemoglobin electrophoresis reveals elevations in hemoglobin A2 and F. Which of the following is the most likely diagnosis?
A patient presents with high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Genetic analysis shows mutations in the LDLR gene that encodes the LDL receptor protein, This patient potentially has
A single base pair change in the __________ generally does NOT affects the portion of the DNA ultimately translated by the ribosome .
loss of UMN
A twenty year old student who is starving for two months in the wilderness would most likely NOT have which of the following problems due to lysine deficiency?
RNA to Protein
According to the central dogma, which of the following flows of information directions is generally NOT directly reversible?
beta - lactams
According to the lecture which of the following drugs or drug classes were SNPs considered not to be a cause of different drug dose efficacy?
autoimmune ALL USED
DNA replication inhibiting drugs are used for all of the types of diseases below except.
During which phase of mitosis do the chromosomes line up?
A mutation that increases the amount of noncoding repetitive DNA near a gene
Fragile X is a disease caused by
Correct About 1 in 100 million (10^8)
How frequently does an error occur in replication?
False - HTT
Huntington's Disease results from a mutation in the Huntingtin(HHT) gene
If a mutation results in the replacement of an amino acid in the linear order of amino acids with a different amino acid, which of the following levels of protein organization has changed?
100% of the daughters will show the trait
If the father is X-linked dominant the daughters will be:
If two parents are homozygous for a genetically inherited recessive trait, what is the probability that they will have a child who does not have this trait in his or her phenotype?
2 out of 4
If two people who are both carriers for a genetically inherited fatal recessive disease decide to become parents, what will be the odds that their children will also become carriers?
In 1959, It was discovered that Down Syndrome is caused by an extra copy of chromosome _______
Pyrimidines to purines
In nucleic acid which of the following is found normally bonded?
It is estimated that humans only have 22,000 functioning genes. Much simpler organisms have many more functioning genes. A major reason that the more complex human development can occur with fewer genes is:
often are inherited together
are closely located on the same chromosome
Linked genes are:
Most chromosomal syndromes have what common clinical manifestation?
Autosomal Co Dominant
Name the mode of inheritance for Alpha 1-antitrypsin deficiency
Name the mode of inheritance for Duchenne Muscular Dystrophy
Name the mode of inheritance for Huntington Disease
Name the mode of inheritance for Osteogenesis Imperfecta
Name the mode of inheritance for Phenylketonuria
B. Two alpha and two beta
Normal hemoglobin A is made up of which of the following subunits?
Offspring that possess gross alterations in chromosomal amounts are generally _________
It increases the possible repertoire of proteins produced from one unprocessed mRNA
Permits a wider diversity of regulatory transcription factors for activation of inhibition
Permits editing of mRNA before translation
Permits greater regulation of events before transcription
One advantage of possessing a nucleus is.
severe adverse reactors
full response patients
partial response patients
One of the aims of pharmacogenomics is to early identify which type of patient?
Trisomy of chromosome 13
Patau's syndrome is caused by,
Duchenne Muscular Dystrohpy
Patient is a male child whose symptons began before age 5 and were visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass was observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs included pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progressed, muscle tissue experienced wasting and was eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces were required to aid in walking until the patient became wheelchair dependent by age 12. Later symptoms included abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occured, eventually leading to paralysis. This patient is potentially exhibiting symptoms of?
Patients with Kleinfelter Syndrome are typically female in phenotype.
controlled by more than just a single pair of alleles
Polygenic traits are ones that are:
Multicopy non-coding sequences
Telomeres are examples of which of the following types of DNA?
The "quad screen" detects Down in what percentage of the cases?
phenotypes are a result of both the genotype and environmental influences
The fact that monozygotic twins do not have identical phenotypes despite the fact that they may look alike is an indication that::
The incidence of Down syndrome increases with increasing age of both parents
this patient has
Trisomy 18 (Edwards's Syndrome) is an example of which of the following types of genetic diseases?
What genetic change discussed is most likely to be the difference in pharmacogenetics?
The chance the fetus may have an aneuploidy.
What information does a prenatal genetic screening test give?
What is supplemented to prevent neural tube defects?
What is the best test for finding a chromosomal aneuploidy?
possible fetal loss
What is the most important disadvantage of the prenatal diagnostic tests as presented in the lecture?
What is the name of the substance that gives the nucleus a granular appearance?
When the genotype consists of a dominant and a recessive allele, the phenotype will be like _________________ allele.
Which condition listed does not usually end in miscarriage?
Which disease in treated in part by a low-phenylalanine diet?
Which disease is least likely to be expressed by the children of an affected parent?
Which disease listed below is not tested for in a "quad screen"?
Which disease would most likely show in the offspring of an affected parent and a non affected parent?
Most SNP's are dominant.
Which is a falsehood concerning SNP's?
Which is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome?
Which is not usually evaluated on a first trimester ultrasound?
DNA polymerases proofread the new DNA looking for errors
Which of the following accounts in part for the low error rate when DNA is replicated?
Which of the following anemias is most likely to be associated with jaundice, unconjugated hyperbilirubinemia, and the presence of Heinz bodies? ©Kaplan
None of them
Which of the following diseases does an individual s genetic constitution NOT contribute to the prognosis of the disease?
Which of the following disorders are most common in the population?
Which of the following is a disease of Type 1 collagen?
Which of the following is a multifactorial disorder?
Which of the following is an established risk factor for ovarian cancer?
Which of the following is known as "Royal disease"?
Which of the following is the inheritance pattern associated with Huntington disease?
Which of the following medications should be avoided in patients with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency? ©Kaplan
Which of the following presents with increasing glove and hat size, hypertrichosis, and teeth gapping? ©Kaplan
Fragile X syndrome
Which of the following syndromes is the most commonly known single gene cause of autism
Which test is not usually recommended for a first trimester screening?
Which test is recommended in the first trimester in a low risk pregnancy?
The PA can help tailor the treatment plan to the patient
The PA can then better educate the patient on prognosis
The PA can better help the patient mitigate or prevent the disease
Why should a PA be aware of the genetic mechanisms of diseases?
Do the quadruple screening and ultrasound as you would have at the original appointment time. The tests are all still accurate.
Your patient missed her prenatal screening appointment you scheduled for 18 weeks and now shows up 2 weeks late for her quadruple screening tests. Your correct reaction is.
____________performs part of a proofreading procedure to confirm complementary to the template base.
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