Pathology QQ #2






  1. Characteristics of this disease include Gower's sign, pseudohypertrophy of the calves, and cardiac myopathy?


    2. Turner's syndrome

    Duchenne's muscular dystrophy

    Becker's dystrophy

    Double Y males



  2. All of the following are true about Turner's syndrome EXCEPT?


    3. ovarian dysgenesis

    Barr body

    webbing of neck

    coarctation of the aorta



  3. Congenital deletion of the short arm of what chromosome is involved in Cri-du-chat syndrome?


    4. 2

    4

    5

    15



  4. What is the second most common cause of genetic mental retardation?


    5. Down Syndrome

    Cri-du-chat

    Fragile X syndrome

    5-alpha reductase deficiency



  5. 22q11 Syndromes include all of the following EXCEPT?


    6. Abnormal facies

    DiGeorge syndrome

    Thymic aplasia

    Hypocalcemia



  6. What autosomal dominant disease has facial lesions, "ash leaf spots," and retinal hamartomas?


    7. Marfan's syndrome

    Neurofibromatosis type I

    Tuberous sclerosis

    von-Hippel Lindau



  7. Autosomal dominant, progressive dementia, caudate atrophy, gene on chromosome 4?


    8. Neurofibromatosis type II

    Phenylketonuria

    Friedreich's ataxia

    Huntington's disease



  8. Children with cystic fibrosis suffer from recurrent pulmonary infections from what bug?


    9. pseudomonas

    mycoplasma

    Haemophilus influenzae type B

    Legionella



  9. Failure of the bony spinal canal to close due to low folic acid intake occurs in what situation?


    10. Spina bifida occulta

    Meningocele

    Meningomyelocele

    all of the above



  10. At what time are newborns at highest risk of developing fetal alcohol syndrome?


    11. 3-8 weeks gestation

    12-16 weeks gestation

    20-24 weeks gestation

    30-36 weeks gestation






Pathology QQ #1


Pathology is without a doubt the most important subject to know for Step 1. Study and know it like the back of your hand!




  1. Which congenital malformation is associated with projectile vomiting?


    2. Hypospadias

    Cleft Lip

    Pyloric Stenosis

    Anencephaly



  2. All of the following are classified as a Right to Left shunt EXCEPT?


    3. Truncus arteriosus

    Patent ductus arteriosus

    Tetralogy of Fallot

    Tranposition of great vessels



  3. This congenital heart disease is heard as a continuous, machine-like murmur?


    4. VSD

    Truncus arteriosus

    ASD

    Patent ductus arteriosus



  4. Eisenmenger's syndrome can occur in all of the following situations EXCEPT?


    5. PDA

    VSD

    ASD

    Transposition of great vessels



  5. Which of the following about coarctation of the aorta is correctly paired?


    6. infantile type- preductal

    infantile type- postductal

    adult type- preductal

    infant and adult type- post ductal



  6. What congenital heart defect is seen in the offspring of diabetic mothers?


    7. Truncus arteriosus

    transposition of great vessels

    ASD

    Coarctation of the Aorta



  7. What syndrome occurs due to trisomy of chromosome 18?


    8. Down's

    Edwards

    Patau's

    Turner's



  8. What syndrome has a strong association with eventually developing alzheimer's disease?


    9. Down syndrome

    Edwards syndrome

    Patau's syndrome

    Turner's syndrome



  9. With what syndrome is there an increased risk of acute lymphocytic leukemia?


    10. Down syndrome

    Edwards syndrome

    Turner's syndrome

    Klinefelter's syndrome



  10. Duchenne's muscular dystrophy is due to what kind of mutation?


    11. Silent

    Missense

    Nonsense

    Frame shift