Question 1

A healthy 19-year-old primigravida is in the 12th week of an uncomplicated pregnancy when she develops vaginal spotting of blood and mild cramping abdominal pain. On physical examination she is afebrile. There is minimal vaginal bleeding but no exudate. A spontaneous abortion occurs a day later. Which of the following conditions is most likely to produce these findings?

A Placental insufficiency

B Chromosomal abnormality

C Congenital infection

D Toxemia of pregnancy

E Maternal drug use

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Question 2

A 26-year-old G4 P3 woman gives birth via normal spontaneous vaginal delivery at term. The infant has Apgar scores of 9 and 10 at 1 and 5 minutes and weighs 2950 gm. The placenta is delivered 10 minutes later and weighs 500 gm. Examination of the placenta reveals that the umbilical attachment to the infant is 100 cm long. Which of the following additional abnormalities is most likely to have been observed at the time of delivery?

A Velamentous insertion

B Placenta previa

C Abruptio placenta

D Amnion nodosum

E Nuchal cord

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Question 3

A 19-year-old woman is G2 P1. Her previous gestation resulted in a normal term birth at home. Her current pregnancy results in the birth of a 2990 gm baby at 35 weeks. At birth the infant appears hydropic and icteric, but no congenital anomalies are noted. The baby's hemoglobin is 8.5 g/dL. The placenta is also hydropic, but microscopic examination of the placenta shows no inflammation of either fetal membranes or placental villi, and there is no meconium staining. Which of the following problems in the mother is the most likely explanation for the subsequent findings in the infant?

A First trimester rubella infection

B Chromosomal abnormality

C Antibodies crossing the placenta

D Elevated serum glucose

E Increased phenylalanine levels

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Question 4

No fetal movement has been felt for the past day by a 25-year-old gravida 3 para 2 woman in her 39th week of pregnancy. Prior to that time, the pregnancy was uncomplicated. The baby is stillborn upon vaginal delivery a day later, after rupture of membranes occurs. Microscopic examination of the placenta reveals marked acute chorioamnionitis. Which of the following infectious agents is most likely responsible for these findings?

A Cytomegalovirus

B Treponema pallidum

C Herpes simplex virus

D Toxoplasma gondii

E Group B streptococcus

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Question 5

A 17-year-old primigravida has noted no fetal movement during her pregnancy, and she is now at 18 weeks gestation. Oligohydramnios is noted on fetal ultrasound scan, making it difficult to visualize fetal internal organs, but the size of the baby appears consistent for 18 weeks gestational age. Following a counseling session with their physician, the parents decide to proceed with prostin induction for a medically indicated termination of pregnancy. Autopsy reveals no external anomalies upon examination of the stillborn male. Which of the following findings is most likely to explain this deformation sequence?

A Toxoplasmosis

B Urethral atresia

C Tracheal stenosis

D Imperforate anus

E Right renal agenesis

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Question 6

A 32-year-old G2 P1 woman has an uncomplicated vaginal delivery of a 30 week gestational age male infant. Apgar scores of 5 and 7 at 1 minute and 5 minutes are recorded at the time of birth. The baby then begins to exhibit increasing respiratory difficulty in the next hour, culminating in the need for intubation and mechanical ventilation. Which of the following laboratory tests during gestation is most likely to predict the complication observed in this infant?

A Maternal serum alpha fetoprotein

B Chromosome analysis on fetal cells from amniocentesis

C Lamellar body count on amniotic fluid

D TORCH titers on maternal blood

E Maternal cocaine screen on blood and urine

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Question 7

A 33-year-old G3 P2 woman gives birth at 38 weeks gestation to a male infant who weighs 2270 gm. Apgar scores are 7 and 9 at 1 and 5 minutes after birth. This neonate has no external anomalies present on physical examination except that he appears somewhat disproportionate, with a head size more appropriate for gestational age than body size. The pregnancy was uncomplicated. Which of the following conditions is most likely to account for these findings?

A Trisomy 18

B Niemann-Pick disease

C Gestational diabetes

D Congenital rubella

E Maternal tobacco use

F Cord accident

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Question 8

A genetic counselor elicits the history that three adult males and one adult female in a family of 10 over 3 generations have an intellectual disability, the males more severely so. Physical examination of these affected males reveals no major morphologic anomalies, though their testes appear to be slightly enlarged, without mass lesions present. These males have been healthy, without a history of major illnesses. Which of the following genetic abnormalities is the most likely etiology for these findings?

A Klinefelter syndrome

B Gaucher disease

C Fragile X syndrome

D Phenylketonuria

E Trisomy 21

F XYY karyotype

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Question 9

A 21-year-old G2P1 woman feels that she is large for dates. She has felt fetal movement for the past week. She has a screening fetal ultrasound scan performed at 16 weeks gestation that reveals markedly increased amniotic fluid (polyhydramnios). Which of the following fetal abnormalities is most likely to cause this finding?

A Renal agenesis

B Ventricular septal defect

C Cytomegalovirus infection

D Small intestinal atresia

E Anencephaly

F Gastroschisis

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Question 10

A 25-year-old gravida 3 para 2 woman gives birth at term to twins. Twin A weighs 2290 gm and twin B weighs 2910 gm. Twin A is pale while twin B exhibits plethora with hydrops fetalis. Which of the following is the most likely cause for these findings?

A Diamnionic-dichorionic placenta

B Congenital infection

C Erythroblastosis fetalis

D Feto-fetal transfusion syndrome

E Placental hemangioma

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Question 11

A 24-year old primigravida gives birth at term to an infant with Apgar scores of 8 and 10 at 1 and 5 minutes. No congenital anomalies are noted. The infant develops abdominal distention over the first week of life. An ultrasound scan is performed that suggests the presence of meconium ileus. Subsequently, the infant has persistent steatorrhea during childhood. Which of the following laboratory test findings is most likely related to this child's underlying disease?

A Decreased serum thyroxine

B Positive human immunodeficiency virus serology

C Elevated sweat chloride

D Increased urine homovanillic acid

E Hyperbilirubinemia

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Question 12

A 20-year-old primigravida experiences a stillbirth at 28 weeks gestation. An autopsy is performed, and the fetus is found to have a hemivertebra, anal atresia, tracheo-esophageal fistula, and renal multicystic dysplasia. The placenta appears normal, and no amnionic bands are seen and no body wall defects are present. Chromosome analysis reveals a 46, XX karyotype. There is no history of any prior birth in this family with such findings. Five subsequent pregnancies in this woman yield normal term births. Which of the following descriptive terms best applies to the spectrum of abnormalities in this stillborn fetus?

A Deformation

B Disruption

C Sequence

D Single gene mutation

E Association

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Question 13

A 23-year-old G3 P2 woman gives birth to a normal term male infant. The pregnancy was uncomplicated. Apgar scores are 10 and 10 at 1 and 5 minutes following birth. The infant weighs 2930 gm and the placenta weighs 550 gm. Which of the following umbilical cord findings is most likely to be found on gross and microscopic examination of this infant's placenta?

A 90 cm overall cord length

B Single artery and single vein

C Paracentral (slightly off-center) insertion into the placental disk

D A single cord true knot near the midpoint

E Focal infiltration of Wharton's jelly by neutrophils

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Question 14

A 20-year-old G2 P1 woman has had an uncomplicated pregnancy, but she has received no prenatal care. She goes into labor at term. During the birth process, she experiences sudden extensive hemorrhage evidenced by profuse vaginal bleeding. The baby is liveborn and weighs 2790 gm. Which of the following is the most likely cause for the bleeding?

A Umbilical cord prolapse

B Placenta previa

C Chorioamnionitis

D Cotyledon infarction

E Gestational diabetes

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Question 15

A clinical study is performed to determine when fetal malformations are most likely to occur during gestation when mothers who have not received prior immunization become infected by rubella virus. The study examines abortuses for congenital anomalies. When during gestation are malformations most likely to arise with rubella infection?

A Implantation

B 5 weeks

C 3 months

D 6 months

E Term

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Question 16

An 18-year-old primigravida gives birth at 38 weeks gestation via uncomplicated vaginal delivery. The baby weighs 1500 gm and the placenta weighs 330 gm. No congenital anomalies are noted. Which of the following conditions is most likely to produce these findings?

A Prematurity

B Intrauterine growth retardation

C Maternal diabetes mellitus

D Cystic fibrosis

E Abruptio placenta

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Question 17

A 7-month-old infant has failure to thrive, with vomiting and diarrhea noted since 1 month of age. Developmental neurologic milestones are not being met. A physical examination reveals hepatomegaly. The eyes show cataract formation in the crystalline lenses. The baby dies of fulminant Escherichia coli septicemia at 8 months of age. Which of the following congenital abnormalities is most likely to produce these findings?

A Von Gierke disease

B Marfan syndrome

C Galactosemia

D Congenital rubella

E Phenylketonuria

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Question 18

A 27-year-old G4 P3 woman gives birth at term to a 2900 gm infant with Apgar scores of 9 and 10 at 1 and 5 minutes following birth. Since 1 of 3 siblings has had a prior diagnosis of a congenital disease, this infant is tested for the deltaF508 mutation of the CFTR gene, which is found to be present. Which of the following conditions is most likely to complicate this infant's neonatal period?

A Pneumonia

B Hyperglycemia

C Meconium ileus

D Right heart failure

E Hepatic failure

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Question 19

A 10-year-old child has joints that show marked hypermobility, and her skin is hyperextensible. Her height and weight are at the 50th percentile. These features are most suggestive of which of the following inherited diseases?

A Marfan syndrome

B Osteogenesis imperfecta

C Ehlers-Danlos syndrome

D Von Recklinghausen disease

E Xeroderma pigmentosa

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Question 20

A 24-year-old primigravida has some cramping pain followed by passage of some fluid along with a foul-smelling discharge late in the second trimester at 24 weeks gestation. The fetus is stillborn 2 days later. Examination of the placenta microscopically show neutrophilic infiltrates within the chorion and amnion. Which of the following organisms is most likely to be responsible for these findings?

A Mycobacterium tuberculosis

B Herpes simplex virus

C Escherichia coli

D Treponema pallidum

E Candida albicans

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Question 21

A 25-year-old woman has a workup for infertility. She has never experienced menarche. On physical examination she is short, with a broad chest and a webbed neck. She has normal intelligence. A blood sample is obtained for chromosome analysis. Which of the following karyotypes is she most likely to have?

A 47, XXX

B 45, X

C 46, XX

D 47, XXY

E 46, XX / 47, XXY

F 47, XX, +18

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Question 22

A 19-year-old primigravida has not noted fetal movement during the pregnancy. A fetal ultrasound shows periventricular leukomalacia. The fetus is stillborn at 30 weeks gestation. Which of the following conditions is most likely to have caused this stillbirth?

A Hypoplastic left heart

B Diaphragmatic hernia

C Galactosemia

D Spina bifida

E Toxoplasmosis

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Question 23

A 30-year-old G2 P1 woman gives birth at 37 weeks gestational age. Apgar scores are 8 at 1 minute and 10 at 5 minutes. The infant is noted to weigh 4450 gm. However, within 3 hours after delivery, the infant is irritable and exhibits seizure activity. Laboratory studies show that the infant's blood glucose is 22 mg/dL. Which of the following is the most likely diagnosis?

A Congenital syphilis

B DiGeorge syndrome

C Gestational diabetes

D Acute pancreatitis

E Rhabdomyosarcoma

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Question 24

A clinical study is performed involving persons who have an inherited genetic mutation involving a large gene that encodes for a structural protein known as fibrillin. Affected persons develop aortic root dilation, mitral valve prolapse, and dislocated ocular lenses. Which of the following is most likely to be a feature of this genetic disease?

A Manifestations typically appear by age 20

B Heterozygotes do not usually manifest the disease

C Spontaneous new mutations are infrequent

D Gene expression is often uniform in families

E The gene encodes for an enzyme

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Question 25

A 25-year-old primigravida experiences a spontaneous abortion at 12 weeks gestation. She had an uncomplicated pregnancy up to that time. There is no family history of congenital abnormalities. Her nutritional status is normal. Which of the following is the most likely cause for her fetal loss?

A Placental abruption

B Umbilical cord torsion

C Congenital syphilis

D Trisomy 16

E Bicornuate uterus

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Question 26

A 39-year-old G3 P2 woman has felt minimal fetal movement since 16 weeks gestation. She gives birth at 30 weeks gestation to a stillborn male. At autopsy this fetus is found to have lungs that are only 1/3 the weight of normal for that gestational age. There are no external anomalies noted, but the infant's nose is flattened and there are prominent infraorbital creases, as well as contractures of the arms and varus deformities of the feet. Which of the following is most likely to cause these findings?

A Blunt abdominal trauma

B Maternal polyhydramnios

C Bilateral renal agenesis

D Decreased fetal surfactant

E Cystic fibrosis

F Congenital infection

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Question 27

A 31-year-old G2 P1 woman has an uncomplicated pregnancy and gives birth at term. Examination of the newborn reveals aniridia. The external genitalia are ambiguous. Chromosome analysis reveals a 46, XY karyotype. The infant does not meet developmental milestones and it is apparent by age 2 that profound intellectual disability (IQ <20) is present. At the age of 3 the child is found to have a left renal mass. Which of the following conditions is this child most likely to have?

A WAGR syndrome

B Edwards syndrome

C Tay-Sachs disease

D Amnionic band syndrome

E Galactosemia

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Question 28

A 25-year-old mother notes that her 18 month old child is not keeping up with the normal growth curve for the past 5 months. She has noted that her child has not been feeding well over that time. The baby's abdomen seems larger than it should be. On physical examination, there is a palpable firm left upper quadrant mass. Which of the following is the most likely diagnosis in this child?

A Recessive polycystic kidney disease

B Cystic fibrosis

C Galactosemia

D Neuroblastoma

E Cystic hygroma

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Question 29

A 21-year-old primigravida gives birth at 29 weeks gestation. At one minute after birth, the baby appears blue in color, has a heart rate of 40/minute, exhibits no respirations, is flaccid with no movement, and does not respond to stimulation. Which of the following is the baby's Apgar score at 1 minute?

A 0

B 1

C 2

D 3

E 4

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Question 30

A clinical study reveals that malformations occur in some, but not all, fetuses whose mothers contract a certain viral infection during pregnancy. Which of the following maternal exposures is most likely to result in cardiac malformation in the fetus?

A A week before her first missed menstrual period

B At 5 weeks gestation

C A day following premature rupture of membranes (PROM)

D At 16 weeks gestation

E During delivery

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Question 31

An autopsy study is conducted to determine distinguishing features for abortuses and stillbirths, since there are medicolegal ramifications to such a classification. A fetal death certificate is required when the findings suggest survival in utero to 20 weeks gestation. Which of the following features is most likely to be present in an "abortion" rather than a "stillbirth"?

A Absence of congenital malformations

B Manner of delivery

C Presence of maceration

D Presence of infection

E Weight of the fetus

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Question 32

A 33-year-old G3 P2 woman gives birth to a male infant at 32 weeks gestation. The baby weighs 3550 gm. No congenital anomalies are noted. An episode of hypoglycemia is treated with intravenous glucose. An hour after birth, the infant develops respiratory distress. Intubation with positive pressure ventilation is performed to maintain adequate oxygenation. Which of the following prenatal tests on the mother would most likely have predicted this outcome?

A Elevated serum alpha-fetoprotein

B Ultrasound scan demonstrating polyhydramnios

C Amniocentesis with 47, XYY karyotype

D Elevated hemoglobin A1C

E Increased serum beta-human chorionic gonadotropin

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Question 33

A 20-year-old primigravida has a normal prenatal course until ultrasound at 19 weeks gestation reveals an enlarged fetal heart and swelling of soft tissues. The infant is born prematurely at 36 weeks gestation. On newborn examination the infant is severely hydropic. Laboratory studies show oxygen saturation >90%, severe anemia, but no hyperbilirubinemia. Which of the following is the most likely cause for the infant's findings?

A Tetralogy of Fallot

B Trisomy 18

C Fetal alcohol syndrome

D Parvovirus infection

E Rh antigen incompatibility

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Question 34

A 16-year-old primigravida gives birth to a 38 week gestational age male. At the time of delivery, it is noted that the umbilical cord has a single artery and vein. Which of the following is the most significant result of this finding in the cord?

A Greater likelihood for congenital anomalies

B Complications from maternal diabetes

C Increased risk for neonatal infection

D Fetal hypoxia with respiratory distress

E Normal appearance for the umbilical cord.

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Question 35

A 24-year-old G1 P1 woman gives birth to a male infant at 36 weeks gestation. Microscopic examination of the placenta following delivery reveals that numerous polymorphonuclear leukocytes are present in the fetal membranes (both chorion and amnion). Which of the following is most likely to be associated with this placental finding?

A Herpes simplex virus infection

B Multiple gestation

C Meconium staining

D Abruptio placenta

E Premature rupture of membranes

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Question 36

A 45-year-old woman is worried about having a child with Down syndrome if she becomes pregnant. What procedure can you do in the course of giving prenatal care that will best allow you to determine if the fetus has Down syndrome?

A Amniocentesis

B Ultrasonography

C Maternal serum alpha-fetoprotein

D Maternal blood typing

E Pap smear

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Question 37

A 32-year-old woman gives birth at 31 weeks gestation. Within an hour following delivery, the neonate develops respiratory distress and expires despite intubation and mechanical ventilation. An autopsy is performed. The lungs are firm and airless; on microscopic examination the lungs demonstrate extensive pink hyaline membranes within alveoli. Which of the following conditions is most likely to cause these findings?

A Trisomy 16

B Twin-twin transfusion

C Two vessel umbilical cord

D Maternal diabetes mellitus

E Diminished surfactant

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Question 38

A 30-year-old G2 P1 woman has felt minimal fetal movement by 17 weeks gestation. On examination the uterine size appears small for dates. An ultrasound scan shows fetal growth retardation. Amniocentesis is performed and chromosome analysis on fetal cells reveals a 47 XX, +13 karyotype. Which of the following ultrasound findings is most likely to be present in this fetus?

A Oligohydramnios

B Cystic hygroma

C Polydactyly

D Hepatomegaly

E Neural tube defect

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Question 39

A 29-year-old G5 P4 woman gives birth via vaginal delivery at 40 weeks gestation. The infant boy weighs 3020 gm. The placenta is delivered 10 minutes later and weighs 540 gm. Upon gross inspection, the fetal surface of the placenta has a greenish appearance. Which of the following is the most likely diagnosis for this placental appearance?

A Placenta previa

B Abruptio placenta

C Amnion nodosum

D Chorioamnionitis

E Meconium staining

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Question 40

A 16-year-old primigravida has a blood pressure of 145/95 mm Hg. Laboratory studies shows the placental growth factor is markedly reduced. Induction of labor at 36 weeks results in delivery of a 2000 gm infant girl. Apgar scores are 6 and 8 at 1 and 5 minutes after delivery. The placenta weighs 400 gm. On physical examination the infant has no abnormal findings. Which of the following conditions is most likely to have caused these findings?

A Pre-eclampsia

B Diabetes mellitus

C Chromosomal anomaly

D Iron deficiency

E Congenital infection

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Question 41

A study is performed of twin placentas. These placentas are examined grossly and microscopically following delivery. Most of these twin placentas are found to be diamnionic and dichorionic upon microscopic examination of dividing membranes. Which of the following is most likely to be found with increased frequency in infants with such placentas?

A Non-identical twins.

B Twin-twin transfusion syndrome.

C Congenital malformation

D Infection

E Failure to thrive.

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Question 42

A 2-year-old child has failure to thrive. The child exhibits convulsions. On physical examination there is hepatomegaly along with multiple ecchymoses of various ages of the skin. Laboratory studies show a blood glucose of 31 mg/dL. Liver biopsy us performed and microscopic examination shows hepatocytes filled with clear vacuoles that stain positively for glycogen. Which of the following inborn errors of metabolism is this child most likely to have?

A McArdle syndrome

B Hurler syndrome

C Tay-Sachs disease

D Von Gierke disease

E Pompe disease

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Question 43

A 10-year-old boy has an intellectual disability, but is able to carry out activities of daily living, including feeding himself and dressing himself. On physical examination, he has brachycephaly and oblique palpebral fissures with prominent epicanthal folds. On the palm of each hand is seen a transverse crease. Upon auscultation of the chest, there is a loud systolic murmur. Which of the following diseases will he most likely develop by the age of 20?

A Chronic renal failure

B Hepatic cirrhosis

C Leukemia

D Bronchiectasis

E Aortic dissection

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Question 44

A 29-year-old G2 P1 woman gives birth at term following an uncomplicated prgnancy to a boy infant. On examination the infant's head size is decreased but symmetrical. The vermillion border of the upper lip is thin and palpebral fissures are short. During childhood, the boy exhibits developmental delay and mild intellectural disability. In school the child's progress is hindered by attention deficit disorder. Which of the following substances did his mother most likely ingest during pregnancy?

A Alcohol

B Coumadin

C Methotrexate

D Thalidomide

E Valproic acid

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Question 45

A 32-year-old G3 P2 woman gives birth at 33 weeks gestation to a 1450 gm girl infant. The infant goes home with mother 2 days later. At day 6 of life the infant has a bloody stool. On examination abdominal distension is present. What is an abdominal radiograph most likely to show in this infant?

A Cystic kidneys

B Dilated bowel

C Hepatomegaly

D Retroperitoneal mass

E Splenomegaly

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