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