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Pathology > Chapter 6 Genetics > Flashcards

Chapter 6 Genetics Flashcards

1
Q

the inheritance and expression of inherited traits

A

Genetics

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2
Q

a distinctive association of signs and symptoms occurring together.

A

Syndrome

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3
Q

physical, biochemical, and physiologic traits of an individual.

A

Phenotype

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4
Q

hereditary units transmitted from one generation to another.

A

Genes

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5
Q

Prophase

A

chromosomes are lining up toward metaphase

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6
Q

Metaphase

A

chromosomes at the equatorial plane of the cell, long and short arms are joined at the centromere, each identical half is a chromatid

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7
Q

Anaphase

A

chromatids are in the process of splitting

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8
Q

Telophase

A

cytokinesis occurs

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9
Q

Mitotic Cycle

A

G1, S, G2, mitotic division

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10
Q

1st Meiosis

A

members of each pair of chromosomes line up and exchange segments contacts known as chiasmata. Chromosomes separate, but no splitting of the centromere occurs.NONDISJUNCTION-occasionally both chromosomes that were crossing over do not separate, and both migrate to the same cell.

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11
Q

2nd Meiosis

A

Essentially a mitotic division (each chromosome splits longitudinally, no replication of DNA occurs before the second meiosis).

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12
Q

Lyon Hypothesis

A

during the early period of embryonic development,the genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated. The inactivated chromosomes form a contracted structure known as a BARR BODY.

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13
Q

nondisjunction, associated with late maternal age (slanted eyes, shorter stature, heart abnormalities, varied intelligence levels, fissured tongue, gingival and perio disease in 90%, hypodontia, abnormally shaped teeth, anomalies in eruption with malposition and crowding of teeth are common.

A

Down Syndrome/Trisomy 21

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14
Q

multiple abnormalities in various organs, 70% die within the first 7 months of life=DEADLY, bilateral cleft lip and palate, microphthalmia or anophthalmia.

A

Trisomy 13

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15
Q

female karyotype, short stature, webbing of neck, edema of hands and feet, low hairline on nape of neck, broad chest with wide spaced nipples, abnormal aorta, sparse body hair, infantile external genitals, primary amenorrhea, and smears have a lack of barr bodies.

A

most are from nondisjunction of the X chromosome, male phenotype, not detected clinically until puberty (taller than normal, wide hips, female pubic hair distribution, development of female breasts, intelligence levels may be lower than normal, testes are smaller and harder, maxilla is slightly hypoplastic, may be XXXY or XXXXY.

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16
Q

caused by deletion of short arm of chromosome 5, catlike cry at birth, mentally retarded.

A

Cri du Chat syndrome

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17
Q

deletion of short arm of chromosome 4. Cleft palate and IQ under 30.

A

Wolf-Hirschhon syndrome

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18
Q

Penetrance

A

refers to the number of individuals affected

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19
Q

Expressivity

A

pertains to the degree to which an individual is affected.

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20
Q

autosomal dominant condition, characterized by a cyclic decrease in the number of circulating neutrophils.Systemic manifestations include: fever, malaise, sore throat, and occasionally cutaneous infections.

A

Cyclic neutropenia

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21
Q

autosomal recessive condition. Oral manifestations include: severe ulcerative gingivitis, gingivostomatitis, ulcerations on tongue and oral mucosa, and repeated episodes lead to severe periodontal disease.

A

Chronic neutropenia or Kostman syndrome

22
Q

autosomal recessive inheritance pattern, peripheral blood neutrophils are depressed, and the theory is that chemotaxis is depressed, hyperkeratosis of the palms of hands and soles of feet. At about 1 ½ to 2 years of age, a gingival periodontal inflammatory process develops: edema, bleeding, alveolar bone resorption, and mobility. Both primary and permanent dentition are lost prematurely.

A

Papillon Lefevre syndrome

23
Q

autosomal dominant, hyperkeratinization of the palms and soles, and marked hyperkeratinization of labial and lingual gingiva.

A

Focal palmoplantar and Gingival Hyperkeratosis

24
Q

a component of several inherited syndromes, composed of very firm tissue with a granular, corrugated surface. Isolated or a component of syndromes:

A

Gingival fibromatosis

25
Q

AD, characterized by gingival fibromatosis, dysplastic or absent nails, malformed nose and ears, Hepatosplenomegaly, Hypoplasia of terminal phalanges of fingers and toes.

A

Laband syndrome

26
Q

AD, characterized by hypertrichosis (especially of the eyebrows, extremities, genitals and sarcral region), epilepsy, and mental retardation

A

Gingival fibromatosis with hypertrichosis, epilepsy, and mental retardation

27
Q

characterized by hypertrophy of the nail beds, multiple hyaline fibrous tumors developing on the nose, chin, head, back, fingers, thighs, and legs.

A

Gingival firbomatosis with multiple hyaline fibromas

28
Q

central giant cell granuloma like, ocular hypertelorism, occurs around 1 1/2 to 4 years of age, flat nose, wide eyes, bilateral facial swelling, multilocular

A

Cheburism

29
Q

missing central incisors, if central tooth is present it is conical in shape, fusion of anterior maxillary gingiva to lips from canine to canine, enamel hypoplasia, presence of natal teeth, Autosomal recessive, dwarfism, hands show polydactyly (extra digits on ulnar side), fingernails and toes are hypoplastic or deformed

A

chondroectodermal dysplasia aka Ellis-van Creveld syndrome

30
Q

AD, affects teeth and bones, half caused by spontaneous mutation and half by gene with poor penetrance, fontanelles remain open so head is mushroom-shaped, microdontia and supernumerary teeth, delayed eruption, hypoplastic clavicles, neck appears longer and narrower, pseudoprognathic because of underdeveloped premaxilla, multiple cysts may develop with impacted teeth, crowding.

A

Cleidocranial dysplasia

31
Q

AD, characterized by osteomas (benign CT tumors), can obliterate sinuses and cause facial asymmetry, multiple odontoma in jaw bones, intestinal polyps in 30s can become malignant, hypercementosis, doesn’t allow eruption

A

Garner syndrome aka familial colorectal polyposis

32
Q

AD, downward sloping of eyes, hypoplastic flat nose, hypoplastic malar bone, misplaced ears, mouth appears fish-like, receding chin, patients are deaf, hypoplastic mandible, malposed teeth, extremely high vault, some patients have cleft palate, malocclusion with anterior open bite

A

Treacher collins syndrome aka mandibulofacial dysotosis

33
Q

AD, hypertelorism, mild prognathism, frontal and parietal enlargement, broad nasal roots, multiple OKCs, Nevi present over the skin usually Basal Cell Carcinoma, bifurcated ribs, spina bifida (more likely latex allergy), shortening of metacarpals, kyphoscoliosis, Various neoplasms include: medulloblastoma, calcifying ovarian fibromas, and mesenteric cysts

A

Nevoid basal cell carcinoma aka Gorlin syndrome

34
Q

Caused by defective genes, sclera is blue, defect in making protein collagen (used to strength bone), Multiple spontaneous bone fractures, dentinogenesis imperfecta like teeth enamel lost due to abnormal dentin, teeth appear opalescent or transulent but darken with age

A

Osteogenesis Imperfecta

35
Q

Van der woude syndrome

A

combination of cleft lip/palate and congenital lip pits (lip dimples at commisures)

36
Q

AD, characterized by multiple capillary dilations of skin and mucous membranes, may lead to epistaxis in nasal cavities, risk of gingival hemorrhage, AR???

A

Hereditary Hemorrhagic Telangiectasia aka Osler-Weber syndrome

37
Q

Extremely tall, neuroma on lips, tongues, buccal mucosa, and often eyelids, everted eyelids, cutaneous pigmentation, skeletal abnormalities, thick large lips, mutation in receptor tyrosine kinase, pheochromocytoma (benign tumor in adrenal glands-increased sweating, heart beat,etc.), medullary carcinoma of thyroid so early diagnosis is imperative.

A

MEN 2B syndrome aka multiple mucosal neuroma syndrome

38
Q

AD, benign growths, papules and growths on facial skin and eyelids, cafe du lait pigmentation, aggravated by puberty, mental disability, multiple skeletal anomalies, and malignant transformation

A

Neurofibromatosis aka Von Recklinghausen

39
Q

Melanotic macular pigmentation, (mouth,lower lip, genitals, palms and soles), and polyps (hamartomas in GI) RARE, AD

A

Peutz Jegher syndrome

40
Q

AD, no treatment, white folded corrugated surface, soft buccal mucosa, thick layer of keratin that desquamates, and leaves a raw mucosal surface, keratotic lesion on buccal mucosa, free gingiva is not affected

A

White sponge nevus aka familial white folded mucosal dysplasia aka cannon disease

41
Q

affects enamel teeth with no associated systemic defects, affects primary incisors if tetracycline used in utero 4-9 months, and permanent incisors if used in first 3 years of life,

A

Amelogenesis Imperfecta

42
Q

tooth enamel does not develop to a normal thickness, AD and AR

A

Type 1-Hypoplastic Amelogenesis Imperfecta

43
Q

normal enamel thickness, but poorly calcified

A

Type 2-Hypocalcified Amelogenesis Imperfecta

44
Q

enamel is softer than normal, “snowcapped”

A

Type 3-Hypomaturation Amelogenesis Imperfecta

45
Q

associated with Taurodontic teeth, yellow to brown pitted enamel, large pulp chambers, enamel is same radiodensity as enamel on x-ray

A

Type 4-Hypoplastic- Hypomaturation Amelogenesis Imperfecta

46
Q

Multiple types, associated with Osteogenesis imperfecta, hereditary opalescent teeth, no pulp chambers or root canals seen, roots are short and thin with periapical radiolucencies,

A

Dentinogenesis Imperfecta

47
Q

normal crowns, but abnormal roots, usually exfoliated prematurely

A

Type 1-Radicular dentin dysplasia-

48
Q

primary teeth are translucent with an amber color, adult teeth apear normal

A

Type 2- Coronal dentin dysplasia

49
Q

genetic heterogenity, hypodontia, partial anodontia, hypotrichosis, hypohydrosis, dry skin, hair brittle, pigmentation around mouth, underdeveloped jaws, more common in males

A

Hypohidrotic ectodermal dysplasia

50
Q

AR, decrease in serum alkaline phosphatase levels, teeth have no cementum and are exfoliated prematurely

A

Hypophosphatasia

51
Q

X-linked dominant inheritance pattern, low serum levels of phosphorus, large pulp chambers, with very long pulp horns, dentin has pronounced cracks, which lead to pulpal infections,

A

Hypophosphatemic Vitamin D resistant rickets

52
Q

-genetically heterogeneous condition with dominant and recessive inheritance, large, pyramid shaped molars with large pulp chambers, furcation of tooth is displaced apically.

A

Taurodontism

Pathology (2 decks)

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