Term
1. All of the following are associated with Achrondroplasia except:
a. A mutation in the fibroblast growth factor receptor 3 gene
b. Two mutations account for more than 99% of all cases
c. Mutations occur only in the maternal germline
d. There is an increased risk of mutation in this gene which is associated with advanced paternal age
e. Pregnant women with achondroplasia require a Cesarean section if the baby is of normal stature |
|
Definition
|
|
Term
2. The pathobiology of Age Related Macular Degeneration is characterized by:
a. Inflammation
b. Single gene inheritance
c. No known non-genetic factors
d. Twin study concordance rates in MZ twins of 100%
e. Y linked inheritance |
|
Definition
|
|
Term
3. In Alzheimer’s Disease, which of the following statement is correct?
a. 10% of persons older than 70 years have Alzheimer’s Disease
b. AD is genetically homogeneous disease
c. Current evidence suggest that defects in Beta amyloid precursor protein metabolism cause the neuronal dysfunction and death observed in AD
d. Turner Syndrome individuals have a higher incidence of AD due to a gene for Beta Amyloid precursor protein being linked to chromosome 21
e. In Western populations, the empirical lifetime risk for AD is about 15%. |
|
Definition
|
|
Term
4. In Beckwith Wiedermann Syndrome:
a. Inheritance is sometime autosomal dominant
b. Inheritance is usually sporadic
c. The condition is the result of an imbalance in the express of the imprinted genes in the p15 region of chromosome 11
d. Only A and C are correct
e. A, B and C are correct |
|
Definition
|
|
Term
5. In Hereditary Breast and Ovarian Cancer the BRCA 1 and 2 genes involved are:
a. Responsible for all cases of breast and/or ovarian cancer
b. Proto-oncogenes
c. Inherited only from mothers to daughters
d. Accountable for about 70-80% of familial breast cancer but only a small fraction of breast cancer overall
e. Not associated with cases of male breast cancer |
|
Definition
|
|
Term
6. Type 1A Charcot-Marie-Tooth (CMT-1A) patients are characterized as:
a. Having an autosomal dominant demyelinating neuropathy
b. Represent 70-80% of all CMT-Type 1
c. Having an increased dosage of PMP22 due to a duplication of the PMP 22 gene on chromosome 17
d. All cases are the result of de novo duplications
e. A, B and C are correct |
|
Definition
|
|
Term
7. Which of the following is not a feature of Charge Syndrome?
a. Coloboma
b. Heart defects
c. Atresia of the choanae
d. Retardation of growth and development
e. Exostoses |
|
Definition
|
|
Term
8. In Chronic myelogenous leukemia, the chromosomal abnormality results in:
a. The expression of a fusion protein of the Bcr-Abl genes
b. A translocation of the X and Y chromosomes
c. A translocation of the 9q34 and22q11
d. Expression of a protein with constitutive tyrosine kinase activity
e. Three of the above are correct |
|
Definition
|
|
Term
9. Crohn Disease phenotype is characterized by all of the following except:
a. Episodic abdominal pain, cramping and diarrhea
b. Occasional hematochezia (blood in the stool)
c. Transmural ulceration and granulomas of the gastrointestinal tract
d. Extraintestinal manifestations including inflammation of the joints, eyes and skin
e. Development of type 1 diabetes mellitus |
|
Definition
|
|
Term
10. In Cystic Fibrosis, which of the following genetic principles does not apply?
a. Multifactoral inheritance
b. Observed in all races, but most common in northern Europeans
c. Results from a genetic defect in a cAMP regulated chloride channel
d. There is marked allelic heterogeneity with more than 1000 allelic mutations
e. Sweat chloride levels are normal in 1-2% of patients with CF |
|
Definition
|
|
Term
11. Congenital Deafness is often the result of some genetic condition. This can be part of a genetic syndrome or alternatively, non-syndromic deafness. Which of the following statements is (are) correct regarding non-syndromic deafness?
a. About 1/500 to 1/1000 newborns have clinically significant congenital hearing impairment
b. Almost all hearing impairments in the newborn are associated with genetic syndromes
c. All congenital deafness is due to genetic causes
d. GJB2 gene mutations result in the abnormal connexin 26 protein, which are expressed in the cochlea and causes impaired gap junctions, resulting in the loss of cochlear function
e. A and D are correct |
|
Definition
|
|
Term
12. The genetic basis of Duchenne Muscular Dystrophy is well understood. The genetic principles demonstrated by DMD are all of the following except:
a. High frequency of new mutations
b. Paternal transmission from affected father to affected sons
c. Allelic heterogeneity
d. Carriers have some manifestations such as cardiac abnormalities
e. Affected children have elevated serum creatine kinase levels |
|
Definition
|
|
Term
13. In Familial Adenomatous polyposis (FAP), the genetic defects results in:
a. Proto-oncogene activation
b. Mutation to a tumor suppressor gene known as APC
c. Somatic mutations in multistep carcinogenesis
d. Penetrance and expressivity of the APC depending on the particular APC mutation, genetic background and environment
e. Three of the above are correct |
|
Definition
|
|
Term
13. In Familial Adenomatous polyposis (FAP), the genetic defects results in:
a. Proto-oncogene activation
b. Mutation to a tumor suppressor gene known as APC
c. Somatic mutations in multistep carcinogenesis
d. Penetrance and expressivity of the APC depending on the particular APC mutation, genetic background and environment
e. Three of the above are correct |
|
Definition
|
|
Term
14. The patient with Familial Hypercholesterolemia is likely to show all of the following characteristic except:
a. Autosomal dominant inheritance and family history of premature cardiac disease
b. Tendon Xanthomas
c. Low levels of plasma Low Density Lipoprotein
d. Non-progressive polyarthritis
e. Arcus corneae |
|
Definition
|
|
Term
15. Males with fragile X syndrome are likely to present with which of the following features on physical examination after puberty?
a. Mild developmental disabilities (formerly referred to as mental retardation)
b. Small head circumference
c. Short, wide face
d. Macro-orchidism
e. Micrognathia |
|
Definition
|
|
Term
16. In G-6-PD deficiency, which of the following are correct?
a. The initial manifestation is commonly neonatal jaundice or acute hemolytic anemia
b. Episodes are associated with oxidative stress
c. Viral and bacterial infections are the most common triggers but drugs and toxins can also precipitate hemolysis
d. Can sometimes cause congenital or chronic nonspherocytic hemolytic anemia
e. All of the above are correct |
|
Definition
|
|
Term
17. A man with undiagnosed hereditary hemochromatosis are likely to demonstrate all of the following except:
a. Fatigue
b. Hypersexuality
c. Hyperpigmentation of the skin
d. Cirrhosis of the liver
e. Cardiomyopathy |
|
Definition
|
|
Term
18. In Hemophila A, which of the following is the most common genetic mutation?
a. Point mutation
b. Deletion
c. Insertion
d. Addition
e. Inversion |
|
Definition
|
|
Term
19. In Hereditary Nonpolyposis Colon Cancer, the genetic mutations result in a defect in which of the following:
a. DNA mismatch repair
b. Glycosylation of DNA
c. Oxidation of DNA
d. Meiotic non-dysjunction
e. All of the above are correct |
|
Definition
|
|
Term
20. Patients with Hirschsprung disease present in early life with impaired intestinal motility. Which of the following statements are not correct about Hirschsprung disease?
a. 10-15% of patients are not identified until after a year of life
b. All patients fail to produce meconium within the first 48 hours of life
c. If Hirschsprung disease in untreated, the results are generally fatal
d. Hirschsprung disease is referred to as a neurocristopathy involving tissues of the neural crest origin
e. Non syndromic Hirschsprung disease has a 4:1 predominance in males vs. females as well as variable expressivity and incomplete penetrance. |
|
Definition
|
|
Term
21. In non-syndromic Holoprosencephaly, (HPE), which of the following is not correct?
a. Most families with an established mode of inheritance exhibit autosomal recessive inheritance
b. The Sonic Hedgehog gene is the first gene identified with mutations causing HPE
c. HPE is the most common human congenital brain defect
d. It affects twice as many girls as boys
e. HPE results from chromosomal and single gene disorders as well as environmental factors |
|
Definition
|
|
Term
22. A CAG repeat sequence of 42 in the huntingtin gene will likely result in a person who:
a. Will not develop symptoms of Huntington Disease in their lifetime
b. Will develop symptoms of Huntington Disease in early childhood
c. Will develop symptoms of Huntington Disease in adulthood
d. Is a carrier of the Huntington Disease gene and cannot transmit it to their children
e. Does not have a risk for Huntington Disease |
|
Definition
|
|
Term
23. A 45 year old man with late onset diabetes mellitus was referred to the endocrinology clinic for counseling regarding his children’s risk for diabetes. He is told all of the following except:
a. Insulin dependent diabetes mellitus (IDDM)is usually caused by autoimmune destruction of islet beta cells in the pancreas
b. Destruction of the islet beta cells causes increased levels of insulin
c. The metabolic changes which occur are similar to those observed in starvation
d. IDDM is the second most common chronic disease of childhood
e. Pancreatic or islet transplantation can cure IDDM. |
|
Definition
|
|
Term
24. Which of the following can result in intrauterine growth retardation?
a. Uteroplacental insufficiency
b. Exposure to drugs or alcohol
c. Congenital infections
d. Intrinsic genetic limitations of growth potential
e. All of the above are correct. |
|
Definition
|
|
Term
25. A patient presents with a diagnosis of Long QT Syndrome. Her husband has many questions about his wife’s condition. You proceed to tell him all of the following information except:
a. Genetics of Long QT is complex involving multiple loci
b. There is also allelic heterogeneity
c. Long QT syndrome is caused by repolarization defects in cardiac cells
d. All Long QT syndrome patients show symptoms of this condition
e. Treatment focuses on prevention of syncopal episodes and cardiac arrest |
|
Definition
|
|
Term
26. When you examine a patient with Marfan Syndrome, you will likely see all of the following clinical features except:
a. Autosomal dominant inheritance
b. Disproportionate tall stature
c. Short fingers
d. Dislocation of the lens
e. Joint laxity |
|
Definition
|
|
Term
27. Miller Dieker Syndrome demonstrates a somewhat unique gene mutation. It presents with facial dysmorphia, sever global mental deficiency and seizures. The genetic mutation in these patients is a:
a. Addition of a single DNA based to a gene on chromosome 11
b. Trisomy for the X chromosome
c. Hemizygous deletion of 17p13.3
d. Haploinsufficiency of LIS1 gene alone
e. Triploidy |
|
Definition
|
|
Term
28. A 22 year old man with myoclonic epilepsy with Ragged Red Fibers is likely to:
a. Inherit the gene mutation from his father
b. Inherit the gene mutation from his mother
c. Transmit the gene only to his sons
d. Transmit the gene only to his daughters
e. Transmit the gene to both his sons and daughters |
|
Definition
|
|
Term
29. The gene responsible for Neurofibromatosis Type 1 is described as a:
a. Proto-oncogene
b. Tumor Suppressor gene
c. A gene which demonstrates an increased mutation rate with advanced paternal age
d. X linked gene
e. Gene with only 5 different known mutations |
|
Definition
|
|
Term
30. Non-Insulin dependent Diabetes mellitus is characterized by all of the following except:
a. More males then females are affected
b. Age on onset between adolescence and adulthood
c. A positive family history is common
d. Associated with obesity
e. Inherited in a polygenetic or multifactorial condition |
|
Definition
|
|
Term
31. In Ornithine Transcarbamylase deficiency:
a. A woman can be a carrier of the gene mutation
b. Levels of plasma ammonium can be markedly elevated
c. Prenatal testing is available to determine the genotype of the at risk fetus
d. Chronic management entails careful control of dietary calories and protein
e. All of the above are correct |
|
Definition
|
|
Term
32. In Polycystic kidney disease, the PKD1 gene involved:
a. Encodes for a transmembrane receptor like protein of unknown function
b. Causes cysts formation in the kidney
c. Can cause cysts in other organs including the liver, pancreas and ovary
d. Follows the two hit hypothesis seen in many cancers
e. All of the above are correct |
|
Definition
|
|
Term
33. Children with Prader Willi Syndrome demonstrate:
a. Hypotonia
b. Feeding difficulties
c. Hypogonadism
d. Cryptorchidism
e. All of the above |
|
Definition
|
|
Term
All of the following statements are incorrect about Retinoblastoma except:
a.. The Rb protein is a tumor suppressor
b.. Mutations in the Rb gene occur only in the promoter region of the gene
c.. A germline mutation is found in all patients with Retinoblastoma
d.. Retinoblastoma always segregates as an autosomal dominant condition with incomplete penetrance
e.. The majority of new germline mutations arise on the maternal alleles |
|
Definition
|
|
Term
34. The MECP2 gene involved in Rett Syndrome results in:
a. a condition seen more commonly in young males
b. encoding a protein that binds methylated DNA and recruits deacetylases to regions of methylated DNA
c. mediation of translational silencing
d. deletions of the MECP2 gene
e. a condition that is rarely sporadic |
|
Definition
|
|
Term
35. An SRY+ XX male have many features seen in patients diagnosed with:
a. Down Syndrome
b. Turner Syndrome
c. Klinefelter Syndrome
d. Marfan Syndrome
e. Trisomy 18 Syndrome |
|
Definition
|
|
Term
36. Which of the following is not a feature of Sickle Cell Disease?
a. Autosomal recessive inheritance
b. Point mutation at the Beta 6 amino acid position of he beta-globin gene
c. Heterozygotes are usually asymptomatic
d. The risk of an affected child born to two carrier parents is 50%
e. 11% mortality from sepsis occurs in the first 6 months of life if children are not treated with antibiotic prophylaxis |
|
Definition
|
|
Term
37. If the incidence of Tay Sachs disease is 1/3600 in the eastern Jewish population in the US, what is the frequency of the heterozygous gene carriers in this population?
a. 1/3600
b. 1/360,000
c. 1/60
d. 1/30
e. 1/10 |
|
Definition
|
|
Term
38. Alpha thalassemia trait is characterized by the loss of how many alpha globin alleles?
a. 4
b. 3
c. 2
d. 1
e. 0 |
|
Definition
|
|
Term
39. Thiopurine S-methytransferase deficiency patients demonstrate:
a. Increased risk of brain tumors
b. Increased risk of acute myelogenous leukemia
c. 15 different mutations in the gene
d. testing for the TPMT mutations is done by polymerase chain reaction assay
e. all of the above are correct |
|
Definition
|
|
Term
40. In Thrombophilia there is evidence of:
a. Gain of function mutations
b. Loss of function mutations
c. Increased risk of venous thrombus
d. Increased incidence with age
e. All of the above are correct |
|
Definition
|
|
Term
41. The most common karyotype in Turner Syndrome is:
a. 47, XYY
b. 45, XO
c. 46, XO
d. 47, XXX
e. 45, YO |
|
Definition
|
|
Term
42. Patients with Xeroderm Pigmentosum are likely to demonstrate which of the following:
a. Autosomal dominant inheritance (recessive)
b. DNA repair defects
c. Progressive neuronal degeneration is almost all patients
d. Normal life span
e. Two of the above |
|
Definition
|
|
