[MCQs] Urology, Gynecology, and Nephrology Quiz (25 test)

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1. A newborn Caucasian girl is healthy with lightly colored eyes, hair, and skin that seem However, her parents are concerned because their first two children, a boy and a girl, have oculocutaneous albinism (MIM*203100) with pink irides, blond hair, and pale skin. They ask their obstetrician-gynecologist about the child while in the delivery room. Which of the following represents the best advice concerning the newborn child?

1. A one-eighth risk for albinism and skin cancer from DNA deletions
2. A one-eighth risk for albinism and skin cancer from DNA cross-linkage
3. A one-fourth risk for albinism and skin cancer from DNA point mutations
4. A one-fourth risk for albinism and skin cancer from DNA deletions
5. A one-fourth risk for albinism and skin cancer from DNA cross-linkage

2. A 1-year-old Caucasian girl presents with growth failure and mild elevation of blood urea nitrogen and creatinine (suggesting decreased kidney function). No hormonal or dietary causes of her growth failure are found, and her mother informs her pediatrician that the child seems to avoid Referral to an ophthalmologist reveals unusual crystals in her cornea. Measurement of her blood amino acids reveals an unusual peak, which on analysis breaks down into an amino acid with a sulfhydryl group. The derived amino acid furthermore seems to have an ionizable side group with a pK of about 8.3. Which of the following is the most likely amino acid?

1. Lysine
2. Methionine
3. Cysteine
4. Arginine
5. Glutamine

3. A 7-month-old Caucasian girl has stopped growing and evaluation reveals a blood urea nitrogen (BUN) level of 36 mg/dL (normal 5-18) and a creatinine of 2.1 mg/dL (normal 0.3-0.7). She also seems sensitive to sunlight, and ophthalmologic slit lamp examination shows crystals in the eye A diagnosis of cystinosis (MIM*219800) is considered reflecting growth delay, photosensitivity with crystals in the lens of the eye, and progressive renal failure due to accumulation of cystine in cellular lysosomes. The defect involves a specific lysosomal membrane receptor that facilitates cystine egress, and an effective therapy has been found using oral cysteamine, a compound similar in structure to cystine. This therapy reflects the general principle that competitive inhibitors typically resemble the structure of   which of the following?

1. Structure of enzyme or receptor protein
2. Structure of substrates or ligands that bind the enzyme/receptor
3. Structure of enzyme reaction products
4. Structure of the transition state in enzyme-catalyzed reactions
5. Structure of an allosteric regulator of enzyme/receptor activity

4. A 16-month-old Caucasian girl is admitted for evaluation of failure to thrive with weight below the third percentile for age despite apparent normal food intake. She is extremely pale and fair-haired, and laboratory studies include a creatinine level of 2.1 mg/dL (normal for age 3-0.7). An ophthalmology consult discovers unusual crystals in the lens of her eye by slit-lamp examination. Her physician suspects an amino acid disorder in which the accumulating amino acid (1) is the product of reduction from another amino acid and (2) can be transaminated to pyruvate. Which of the following amino acids would fulfill these characteristics?

1. Alanine
2. Cysteine
3. Serine
4. Glycine
5. Hydroxyproline

5. A 16-year-old teenage female is evaluated because of lack of menstruation (amenorrhea) and is found to have a 46,XY DNA testing shows a mutation in the testosterone receptor that is characteristic of testicular feminization or androgen insensitivity syndrome (MIM*300068). Which of the following statements accurately describes sex hormones such as testosterone?

1. They bind specific membrane
2. They interact with DNA
3. They cause release of a proteinaceous second messenger from the cell
4. They enhance transcription when bound to
5. They inhibit translation through specific cytoplasmic

6. Which of the following statements about prostaglandins is accurate?

1. They are precursors to arachidonic
2. They release arachidonic acid from membranes through the action of phospholipase
3. They were first observed to cause uterine contraction and lowering of blood
4. Although found in many organs, they are synthesized only in the prostate and seminal
5. They may be converted to leukotrienes by

7. A 14-year-old African American girl is evaluated in the emergency room and noted to have increased respiration (tachypnea), vomiting, and confusion. She bleeds from puncture sites during withdrawal of blood for testing, and a urine toxicology screen reveals increased amounts of acetosalicylic acid, ibuprofen, and acetaminophen. Initial blood studies show an elevated pH (alkalosis) with a salicylate level of 75 mg/dL (above 35 considered toxic). She has a past history of depression and suicide Which of the following enzymes are likely to be inhibited?

1. Lipoprotein lipase
2. Lipoxygenase
3. Cyclooxygenase
4. Phospholipase D
5. Phospholipase A2

8. A 28-year-old female has had normal progress of her first pregnancy except for some early bleeding that resolved. At 30 weeks gestation, vaginal bleeding recurs and she experiences abdominal cramping suggestive of early Which of the following treatments might be recommended?

1. Linoleic acid dietary supplement
2. Arachidonic acid dietary supplement
3. Prostaglandin therapy
4. Steroid therapy
5. Angiotensin II therapy

9. Which of the following is appropriate for a patient with renal failure?

1. High-carbohydrate diet
2. High-protein diet
3. Low-fat diet
4. High-fiber diet
5. Free water of at least 3 L/d

10. A couple is referred to the physician because their first three pregnancies have ended in spontaneous abortion. Chromosomal analysis reveals that the wife has two cell lines in her blood, one with a missing X chromosome (45,X) and the other normal (46,XX). Her chromosomal constitution is best described as which of the following?

1. Chimeric
2. Polyploid
3. Trisomic
4. Mosaic
5. Euploid

11. A 10-year-old Caucasian girl with early developmental and speech delay is able to progress to third grade but is failing fourth Evaluation shows an elongated body habitus like her mother with somewhat lax joints. Genetic evaluation is suggested, and a chromosomal analysis reveals a 47,XXX karyotype with normal fragile X DNA studies. Which of the following descriptions best fits this abnormality?

1. A female with mosaicism
2. A female with polyploidy
3. Sex chromosome aneuploidy
4. A female with Turner syndrome
5. A female with X monosomy

12. The parents of a 13-year-old Caucasian adolescent are asked to have their child evaluated because of poor grades and aggressive, defiant behaviors at A neuropsychology evaluation reveals poor fine motor coordination with dysgraphia (poor handwriting) and borderline IQ of 91. A parental questionnaire suggests characteristics of oppositional-defiant disorder, prompting pediatric genetic evaluation that reveals a 47,XYY karyotype. Which of the following options correctly describe the origin of the 47,XYY karyotype in this child?

1. Meiosis division I of paternal spermatogenesis
2. Meiosis division I of maternal oogenesis
3. Meiosis division II of paternal spermatogenesis
4. Meiosis division II of maternal oogenesis
5. Meiosis division II in either parent

13. A female with Turner syndrome is denoted by which of the following cytogenetic notations?

1. 47,XX,+21
2. 45,X
3. 47,XXX
4. 46,XX,t(14;21)
5. 45,XX, –21

Refer to the figure below for the next two questions.

14. Which of the diagrams above depicts a reciprocal translocation?

1. Diagram A
2. Diagram B
3. Diagram C
4. Diagram D
5. Diagram E

15. A 15-year-old Hispanic adolescent with manifestations of Turner syndrome is found to have a karyotype described as 46,XX,i(Xq). This best fits with which of the lettered diagrams above?

1. Diagram A
2. Diagram B
3. Diagram C
4. Diagram D
5. Diagram E

Refer to the figure below to answer the next three questions.

16. A 1-day-old newborn Caucasian girl has swelling of the dorsal areas of her feet in the nursery; later follow-up showed that the swelling resolved and she did well during childhood. She also has delayed menstruation, broad neck and chest, mild short stature, and decreased peripheral pulses that suggest the possibility of coarctation of the Ovaries could not be seen on pelvic ultrasound, and the uterus was thin. Her physician suspects a chromosomal disorder and orders a karyotype. Which of the results pictured is most likely?

1. Result A
2. Result B
3. Result C
4. Result D
5. Result F

17. A 1-day-old Caucasian boy feeds poorly, turning blue and choking after breast-feeding. He is also very floppy (hypotonic), has a loud heart murmur, and has some unusual physical These include a flat occiput (brachycephaly), folds over the inner corners of the eyes (epicanthal folds), single creases on the palms (single palmar creases), and a broad space between the first and second toes. Significant in the family history is that one of the parents’ three prior children had Down syndrome. After obtaining a chromosome analysis, which of the results pictured is most likely?

1. Result A
2. Result B
3. Result C
4. Result D
5. Result F

18. A 2-week-old African American girl is hospitalized for inadequate feeding and poor The parents are concerned by the child’s weak cry. An experienced grandmother accompanies them, saying she thought the cry sounded like a cat’s meow. The grandmother also states that the baby doesn’t look much like either parent. The physician orders a karyotype after noting a small head size (microcephaly) and subtle abnormalities of the face. Which of the results pictured is most likely?

1. Result A
2. Result B
3. Result C
4. Result D
5. Result F

19. A family is seen for routine prenatal counseling because the mother of two normal children is of age 35, the arbitrary “advanced maternal age” when the approximate 1 in 100 risk for fetal chromosome disorders is deemed Family history reveals that the mother’s parents and her husband all have had onset of high blood pressure (hypertension) at early ages, and two of mother’s grandparents died of strokes that may be hypertension related. The mother also had some hypertension in the third trimester of her last pregnancy. Recognizing that hypertension is a multifactorial trait, which of the following is the most appropriate explanation and counseling for the couple?

1. Multifactorial determination indicates an interaction between the environment and a single gene, implying a 50% risk for eventual hypertension in the mother and the
2. Multifactorial determination indicates an interaction between the environment and multiple genes, implying a 5% to 10% risk for eventual hypertension in the mother and the
3. Multifactorial determination results from multiple postnatal environmental factors, implying a 75% to 100% risk for eventual hypertension in the mother and a 5% to 10% risk to the
4. Multifactorial determination results from multiple pre- and postnatal environmental factors, implying a 75% to 100% risk for eventual hypertension in the mother and a 5% to 10% risk to the
5. Multifactorial determination implies action of multiple genes independent of environmental factors, implying low risks for hypertension in the mother’s next pregnancy, but a 5% to 10% risk for eventual hypertension in

20. The incidence of a genetic form of diabetes insipidus (MIM*304800) in North Americans was hypothesized to be related to immigration of affected individuals on the ship Hopewell that arrived in Halifax, Nova Scotia several hundred years If the disease allele were known as A, and residents near Halifax had 10 times the frequency of this allele as did those on mainland Canada, which of the following terms best describes this phenomenon?

1. Selection for allele A
2. Linkage disequilibrium with allele A
3. Linkage to allele A
4. Founder effect for allele A
5. Assortative mating for allele A

21. Polycystic kidney disease (MIM*173900) is a significant cause of renal failure that presents from early infancy to Early-onset cases tend to affect one family member or siblings, whereas adult-onset cases often show a vertical pattern in the pedigree. Which of the following offers the best explanation of these facts?

1. Pleiotropy
2. Allelic heterogeneity
3. Locus heterogeneity
4. Multifactorial determination
5. Variable expressivity

22. Every prenatal diagnostic evaluation should include which of the following procedures?

1. Level I ultrasound
2. Chorionic villus sampling (CVS)
3. Doppler analysis
4. Amniocentesis
5. Genetic counseling

23. DNA analysis is performed on a family because the first child has propionic The parents desire prenatal diagnosis, and the fetal DNA is also analyzed for polymorphic alleles A and B that are linked to the causative mutation (see the figure below). The results are shown below. Which of the following risk figures reflect the risk of the fetus being affected before and after testing?

1. ½, virtually 0
2. b. ¼, 2/3
3. ¼, ½
4. ¼, 2/3
5. ¼, virtually 0

24. A newborn presents with ambiguous genitalia, having an enlarged clitoris or small phallus and labial fusion or hypoplastic The newborn’s sex can most reliably be established by which of the following?

1. Buccal smear to determine if there are one or two Barr bodies
2. Buccal smear to determine if there is one Barr body or none
3. Peripheral blood karyotype
4. Bone marrow karyotype
5. Polymerase chain reaction (PCR) using primers specific for the long arm of the Y chromosome

25. The dot-blot shown below examines DNA from a child with ambiguous genitalia after polymerase chain reaction (PCR) amplification and hybridization with DNA probes from the X and Y In this case, the Y chromosome probe (DXS14) is from the SRY region of Yp that contains the male-determining region. DNA from control male and female patients is also applied to the dot-blot. Based on the dot-blot results, which is the most likely conclusion?

1. The proband is a genetic
2. The proband is a genetic
3. The proband is
4. The proband is
5. The proband is mosaic 46,XX/46,XY.