Chapter 6 Genetics

  1. DNA is packaged into tiny units called ________, which are only visible in the cell nucleus during ______
    • chromosomes
    • mitosis
  2. Alleles are the exact location on a gene that determine a
    specific trait
  3. 22 of the pairs are perfectly matched and called
  4. Molecular Abnormalities occur at the
    DNA level and are not detectable microscopically
  5. Most inherited disorders are
    molecular abnormalities
  6. Gross Abnormalities can be observed in a
    karyotype, which is a photographic representation of a person’s chromosomes
  7. Euploid
    a complete second set of chromosomes equaling 92
  8. Polyploid
    3 or 4 complete sets of chromosomes
  9. Aneuploid
    Any extra number of chromosomes
  10. Trisomy
    a chromosome pair with an identical extra chromosome
  11. Monosomy
    a missing chromosome from a pair
  12. About 30% of Down Syndrome patients also have
    heart abnormalities
  13. The inactivated X chromosome remains in the cell and is called a
    Barr body
  14. If the XX gamete joins a Y gamete to form an XXY individual, that person is a
    sterile male with many female characteristics and some retardation.. Klinefelter’s Syndrome
  15. If the “O” (missing) gamete joins an X gamete to form an XO individual, the result is
    a sterile female.. Turner’s Syndrome
  16. For Autosomal Recessive Inheritance To manifest the trait, the individual must be
    homozygous for the gene (rr )
  17. If an affected child is born from normal parents, they would have to be ________with both parents being carriers
    heterozygous (Rr),
  18. If both parents are homozygous for a recessive trait, they would have the trait and
    all their children would be affected
  19. If only one parent has the recessive trait, ___ children would be affected and ___ would be carriers
    • no
    • half
  20. Cyclic Neutropenia is autosomal dominant and is characterized by a ______ which occur every ______ days and lasts for ______ days
    • cyclic decrease in circulating neutrophils
    • 21 to 27
    • 2 to 3
  21. Cyclic Neutropenia Orally consists of
    severe gingivitis or gingivostomatitis
  22. What is the treatment of Cyclic Neutropenia
    G-CSF granulocyte colony-stimulating factor
  23. Papillon-Lefevre Syndrome an autosomal recessive inheritance and is characterized by _______ of both dentitions with _________ and ________
    • marked destruction of the periodontal tissues
    • premature loss of teeth
    • hyperkeratosis of the palms of the hands and soles of the feet(palmarplantar hyperkeratosis)
  24. With Papillon-Lefevre Syndrome Teeth erupt in their normal sequence but at about 1 ½ to 2 years there is
    rapid bone destruction with all permanent teeth lost by age 14
  25. Focal Palmoplantar and Gingival Hyperkeratosis is of _______ inheritance Characterized by areas of ______ and _______
    • autosomal dominant
    • hyperkeratinization on the palms and soles and marked hyperkeratinization on the labial and lingual gingiva
  26. Laband Syndrome Characterized by ________ and the Absence of ______
    • gingival fibromatosis
    • nails and malformed ears and nose due to defect in cartilage
  27. Gingival Fibromatosis is characterized by
    gingival hyperplasia beginning around puberty
  28. Cherubism is autosomal dominant and is clinically characterized by a ________ beginning between ________ years of age
    • progressive bilateral asymptomatic facial swelling
    • 1 ½ and 4
  29. Cleidocranial Dysplasia is autosomal dominant and is characterized by ________ and the ________
    • aplasia or hypoplasia of the clavicles and craniofacial malformations
    • Presence of numerous supernumerary or unerupted teeth!!
  30. Image Upload 1
    Cleidocranial Dysplasia
  31. Gardner Syndrome or familial colorectal polyposis is autosomal dominant and is characterized by ________especially in the ______. Also, multiple odontomas can occur. The most serious component is _________
    • multiple osteomas especially in the skull, mandible and maxilla
    • multiple colorectal polyps which become malignant by age 30 and later
  32. Image Upload 2
    Mandibular Dysostosis or Treacher Collins syndrome
  33. Image Upload 3
    Van der Woude Syndrome
Card Set
Chapter 6 Genetics
Chapter 6 Genetics