Quiz 6 and 7 Flashcards
During the early period of embryonic development (possibly by the end of the second week), the genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated. Either the X chromosome derived from the mother or the father. The inactivated chromosome remains contracted when the cell is not dividing and forms a structure known as a Barr Body. Barr Bodies are ONLY seen in female cells
Lyon Hypothesis
During the early period of embryonic development (possibly by the end of the second week), the genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated. Either the X chromosome derived from the mother or the father. The inactivated chromosome remains contracted when the cell is not dividing and forms a structure known as a Barr Body. Barr Bodies are ONLY seen in female cells
Lyon Hypothesis
AKA familial colorectal polyposis
autosomal-dominant inheritance.
Presence of osteomas in various bones, especially the frontal bones, mandible, and maxilla.
In addition to the osteomas, multiple odontomas can occur in the jawbones, especially in the mandible. Teeth can exhibit hypercementosis and fail to erupt.
THE MOST SERIOUS component of this syndrome is the presence of multiple colorectal polyps that become malignant at are 30 and after
Garner Syndrome
Which genetic condition results with missing vestibule?
Ellis-van Creveld Syndrome. Which is autosomal recessive, affected individuals are dwarfs because of the distal shortening of the extremities. The hands show polydactyly (supernumerary digits)
50% of affected individuals have congenital heart defects.
Oral defects are consistent and include : missing frenum (book words it as anterior maxillary vestibule is lacking)
Central incisors of both maxilla and mandible are generally lacking and are replaced by a centrally located abnormal tooth. Most teeth have conical shape and exhibit enamel hypoplasia. More than 50% of newborns with this syndrome have natal teeth.
Which genetic condition results with underdeveloped larynx?
Cri du Chat Syndrome, which results from a deletion on the short arm of chromosome 5. No oral abnormalities occur, mental retardation is characteristic.
autosomal recessive, marked destruction of periodontal tissues (periodontoclasia) of both dentitions with premature loss of teeth and hyperkeratosis of the palms of the hands and soles of the feet.
At about 1.5 to 2 years of age, a marked gingivoperiodontal inflammatory process develops
Extensive bone loss results in teeth that appear to be floating in soft tissue when viewed radiographically
At about 8 or 9 years of age the gingivoperiodontal destruction is repeated n the same manner as occurred in the primary dentition. All permanent teeth are lost before 14 years of age
Peripheral blood neutrophil count is depressed in all patients with this syndrome. This suggests that neutrophils may be an important factor in the pathogenesis of severe periodontal disease in these patients.
Papillon Lefevre Syndrome
95% of cases of Down syndrome are the result of nondisjunction, mostly associated with late maternal age at time of conception.
Slanted eyes characterize the facies
Fissued tongue
Macroglossia
Premature loss of teeth, especially mandibular central incisors
Gingival and perio disease in 90% of affected individuals
Hypodontia (fewer teeth than normal) abnormally shaped teeth, and anomalies in eruption with malposition and crowding of teeth are common findings.
Trisomy 21
autosomal-dominant
Short arm of chromosome 19
Multiple melanotic macular pigmentation of the skin
Pigmentation of the hands, nasal mucosa, and eyes can also occur.
Intestinal polyps are hamartomas (abnormal growth of normal tissue in its normal location)
Only rarely do they undergo malignant transformation
MEMORY TIP: This patient drank a bottle of jager and now has stain spots on their lips. They were 19 years old so they drank it fast and it made bubbles in their intestine (polyps)
Peutz-Jeghers Syndrome: aka hereditary intestinal polyposis syndrome
malignant skin tumor associated with sun exposure
DOES NOT occur in oral cavity
Frequently arise on skin and appear as non healing ulcer with characteristic rolled borders. It develops a crusted surface that begins as small as 0.5cm but will continue to enlarge slowly.
No sex predilection
Can become quite large if not removed
Composed of proliferation of basal cells derived from the surface stratified squamous epithelium.
In most cases the tumor cells are well differentiated
Basal Cell Carcinoma
autosomal dominant
30% of patients have a family history of this condition
70% represent sporadic cases and cases suggesting autosomal-recessive inheritance
The basic defect is produced by different mutations affecting the genes that encode for type I collagen, resulting in abnormally formed bones that fracture easily.
Chromosome 7
Osteogenesis imperfecta
During this phase the chromosomes stain intensely and are arranged almost symmetrically at BOTH sides of the center or equatorial plane of the cell
During metaphase chromosomes are actually formed by two identical vertical halves, each composed of either left or right short and long arms and half ot the centromere. Each of these identical haves are called a chromatid.
Metaphase
Term questions. Benign vs malignant. -oma vs -coma with some exceptions.
Benign is usually with -oma at the end of it, and malignant is with -sarcoma or -coma. Benign is usually: Well differentiated Usually slow growth Mitotic figures are rare No metastasis
Malignant: Well differentiate to anaplastic Slow to rapid growth Mitotic figures may be numerous Invasive and Unecapsulated Metastasis likely
What is carcinoma in situ?
Carcinoma in situ- severe dysplasia involving full thickness of the epithelium.
Severe dysplasia involving the full thickness of epithelium
Early stages of cancer?
Leukoplakia- depending on the study, approximately 5-25% of leukoplakias examined microscopically demonstrate epithelial dysplasia
Erythroplakia-smooth red or a granular red and velvety patch. Erythroplakia is much less common than leukoplakia.
When examined microscopically more than 90% of cases demonstrate epithelial dysplasia or squamous cell carcinoma.
Oral Submucous Fibrosis- #1 cause of death in women in India. Malignant transformation to squamous cell carcinoma has been reported to be between 2% to 8%.
Epithelial Dysplasia- microscopic diagnosis that indicated disordered growth. May present clinically as an erythematous lesion, white lesion, or a speckled leukoplakia.
These lesions often arise in the floor of the mouth or tongue.
Leukoplakia keratinization- various forms of hyper-keratinization. Irregular hypokeratosis. Under microscope you see keratin pearls, unique to SCC
Because keratin is a product of squamous epithelium, well differentiated tumors show keratin formation. It may be seen in individual cells within the tumor and as structures called KERATIN PEARLS.
AKA familial colorectal polyposis
autosomal-dominant inheritance.
Presence of osteomas in various bones, especially the frontal bones, mandible, and maxilla.
In addition to the osteomas, multiple odontomas can occur in the jawbones, especially in the mandible. Teeth can exhibit hypercementosis and fail to erupt.
THE MOST SERIOUS component of this syndrome is the presence of multiple colorectal polyps that become malignant at are 30 and after
Garner Syndrome
