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Oral Pathology > Chapter 6 Genetics > Flashcards

Chapter 6 Genetics Flashcards

1
Q

Genes that are located at the same level or locus in the two chromosomes of a pair and that determine the same functions or characterisitcs

A

Alleles

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2
Q

An organic compound containing an amino group NH2; amino acids are the main component of proteints

A

amino acid

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3
Q

Nonsex chromosomes, which are identical for men and women

A

autosomes

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4
Q

Condensed chromatin of the inactivated X chromosome, which is found at the periphery of the nucleus of cells in women

A

Barr Body

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5
Q

In genetics, a heterozygous individual who is clinically normal but who can transmit a recessive trait or characteristic; also a person who is homozygous for an autosomal-dominany condition with low penetrance.

A

Carrier

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6
Q

The constricted portion of chromosome that divides the short arms from the long arms

A

centromere

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7
Q

Either of the two vertical halves of a chromosome that are jointed at the centromere

A

chromatid

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8
Q

A general term used to refer to the material that forms the chromosomes

A

chromatin

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9
Q

structures located in the nucleus of cells and on which genes are found

A

chromosome

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10
Q

A congenital defect of the eye; notch on the outer area of the lower lid

A

Coloboma

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11
Q

Blood relationship; in genetics the term is generally used to describe a mating or marraige between close relatives

A

consanguinity

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12
Q

substance composed of a double chain of polynucleotides, with both chains coiled around a central axis to form a double helix; it is the basic genetic code or template for amino acid formation

A

DNA

deoxyribonucleic acid

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13
Q

Diploid

A

Having two sets of chromosomes; the normal constitution of somatic cells

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14
Q

In genetics, a trait or characterisitc that is manifested when it is carried by only one of a pair of homologous chromosomes

A

dominant

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15
Q

expressivity

A

The degree of clinical manifestation of a trait or characteristic

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16
Q

facies

A

the appearance of the face

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17
Q

Gamete

A

Speratozoon or ovum

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18
Q

Hereditary units, transmitted from one generation to another, that are made up of a sequence of nucleotides and located on a chromosome

A

Gene

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19
Q

Having more than one inheritance pattern

A

genetic heterogeneity

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20
Q

Having a single set of chromosomes’ a gamete is haploid

A

haploid

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21
Q

Heterozygote

A

An individual with two different genes at the allel loci

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22
Q

Homozygote

A

An individual with identical genes at the allele loci

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23
Q

A condition in which there is greater-than-normal distance between two paired ograns; ocular hypertelorism, a condition marked by greater-than- normal distance between the eyes

A

hypertelorism

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24
Q

Hypodontia

A

A developmental condition marked by fewer than normal teeth; also called partial anodontia.

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25
Q

Hypotrichosis

A

the presence of less than the normal amount of hair

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26
Q

Hypoplastic

A

Underdeveloped

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27
Q

A photomicrographic representation of a person’s chromosomal constitution arranged according to the Denver classification

A

Karyotype

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28
Q

Locus

A

The position occupied by a gene on a chromosome

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29
Q

Two-step cellular division of the original germ cells, which reduces the chromosomes from 4n DNa to 1n DNA

A

Meiosis

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30
Q

Metaphase is the phase of cellular division in which the chromosomes are

A

lined up evenly alonge the equatorial plane of the cell and in which they are most visible

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31
Q

Mitochondria

A

Cytoplasmic organelles that have their own DNA in a ciruclar chormosome

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32
Q

Unique DNA that is maternally inherited

A

Mitochondrial DNA

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33
Q

Way in which somatic cells divide so that the two daughter cells receive the same number of identical chromosomes

A
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34
Q

The type of hereditary pattern seen when there is more than one genetic factor involved and, sometimes, when there are also environmental factors participating in the causation of a condition

A

Multifactorial inheritance

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35
Q

A permanent change in the arrangement of genetic material

A

Mutation

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36
Q

In genetics, when chromosomes that are crossing over do not separate; therefore both migrate to the same cell

A

Nondisjunction

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37
Q

Oligodontia

A

A condition in which more than six teeth are developmentally absent

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38
Q

The process of formation of female germ cells (ova)

A
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39
Q

Egg; mature feminine germ cell

A

Ovum

40
Q

The frequency with which a heritable trait is exhibited by individuals carrying the gene or genes that determine that trait

A

penetrance

41
Q

The entire physical, biochemical, and physiological makeup of an individual; genotype is the genetic composition, and phenotype is its observable appearance

A

phenotype

42
Q

A condition in which the teeth develop but do not erupt

A

Pseudoanodontia

43
Q

A trait or characterisitc that shows clinically when a double-gene dose (homozygosity) exists in autosomal chromosomes or a single-gene dose exists in males if the trait is X-linked.

A

Recessive

44
Q

Single strands of polynucleotides found in all cells; different type of this have different functions in the production of proteins

A

RNA

ribonucleic acid

45
Q

Cytoplasmic organelles in which proteins are formed on the basis of the genetic code provided by RNA

A

Ribosome

46
Q

The process of formation of spermatozoa (sperm)

A

Spermatogenesis

47
Q

Cytoplasmic organelles in which proteins are formed on the basis of the genetic code provided by RNA

A

Ribosome

48
Q

A mature male germ cell

A

Sprematozoon

49
Q

Syndrome

A

A set of signs or symptoms (or both) occuring together

50
Q

A genetic, heterogeneous condition of molar teeth with dominant and recessive inheritance patterns characterized by an enlarged pulp chamber, apical displacement of the pulpal floor, and no constriction at the level of the cemento-enamel junction

A

Taurodontism

51
Q

The portion of a chromosome attached to another chromosome

A

Translocation

52
Q

A pair of chromosomes with an identical extra chromosome

A

Trisomy

53
Q

What are the stages of mitosis in order?

A
  1. Prophase
  2. Metaphase
  3. Anaphase
  4. Telophase
54
Q

What is this?

a single strand

surgar is ribose

has uracil

A

RNA

ribonucleic acid

55
Q

What are the four types of RNA?

A
  1. messenger RNA (mRNA)
  2. transfer RNA (tRNA)
  3. ribsomal RNA (rRNA)
  4. hetergeneous nuclear RNA (hnRNA)
56
Q

When the allelic genes are identical, the person is said to be ________ for that gene

A

homozygous

57
Q

When the genes are different the person is said to be _________ for that gene.

A

heterozygous

58
Q

What is a substance that enhances mitosis?

A

phytohemagglutinin

59
Q

What substance is added to a culture after 72 hours of culture at 37 C to stop mitosis at metaphase

A

colchicine

60
Q

A comlete second set of chromosomes, the total number being 92. This is incompatible with life.

A

Euploid

61
Q

Three (triploid) or four (tetraploid) complete sets of chromosomes. This has been described occansionally in humans and is incompatible with life.

A

Polyploid

62
Q

Any extra number of chromosomes that do not represent an exact multiple of the total chromosome complement (e.g. trisomy (a pari with identical extra chromosome) and monosomy ( a missing chromosome from a pair).

A

Aneuploid

63
Q

The loss of a part of a chromosome is

A

deletion

64
Q

A portion of a chromosome is attached to another chromosome.

A

Translocation

Think trans as in transient, a part of a chromosome hitching a ride with another chromosome

65
Q

A portion of a chromosome is upside-down

A

Inversion

66
Q

A chromosome is larger than normal; the extra segment is identical to a segment of the normal chromosome

A

Duplication

67
Q

95% of cases of __________ are the result of nondisjunction, mostly associated with late maternal age at the time of conception

A

Trisomy aka Down Syndrome

68
Q

What syndrome is this describing?

95% of cases are result on nondisjunction, mostly associated with late maternal age at the time of conception

Slanted eyes

Patients are shorter than normal, and heart abnormalities are present in more than 30% of individuals

Fissured tongue frequently present

Macroglossia

Hypodontia, abnormally shaped teeth, and anomalies in eruption with malposition and crowding of teeth are common findings

Gingival and periodontal disease has been reported in 90% of affected individuals

A

Trisomy 21

69
Q

What syndrome is this describing?

This is characterized by multiple abnormalities in various organs. Seventy percent live-born infants die within the first 7 months of life

Cleft lip and cleft palate, microphthalmia (small eyes) or anophthalmia (no eyes), superfifical hemangioma of the forehead or nape of the neck, growth retardation, severe mental handicap, polydactyly of the hands and feet (supernumerary digits), clenching of the fist with thumb under the fingers, rocker-bottom feet, heart malformations, and several anomalies of the external genitals

Facial appearance is quite striking because of the cleft lip, cleft palate, and ocular abnormalities

A

Trisomy 13

70
Q

Patients with this syndrome have a female phenotype

Majority of cases the karyotype has the normal 44 autosomal chromosomes and only one X chromosome.

Most cases are result of nondisjunction of X chromosome in the paternal gamete

These women are short, have webbing of the neck, and edema of the hands and feet

Low hairline on the nape of the neck

Chest broad with wide-spaced nipples

Aorta frequently is abnormal, and body hair is sparse

External genitals appear infantile, and generally the ovaries are not developed’ therefore these individuals have primary amenorrhea (abnormal temporary or permanent cessation of the menstrual cycle).

Smears taken from oral mucosa demonstrate lack of Barr bodies

A

Turner Syndrome

71
Q

The majority of cases result from nondisjunction of the X chromosome, generally in the ova of older women. Affected indivuals have a male phenotype

Cannot be detected clincially until after puberty

Taller than normal and have wide hips and female pubic hair distribution

About 50% have gynecomastia (development of female breasts)

Maxillar slightly hypoplastic (underdeveloped)

Buccal smears reveal presence of one Barr body

The greater the number of X chromosomes, the more pronounced the clinical manifestations and the lower level of intelligence.

Maxilla becomes increasingly hypoplastic with increasing number of X chromosomes. Buccal smears show one Barr body for each extra X chromosome

A

Klinefelter Syndrome

72
Q

example of abnormality caused by deletion of short arm of chromosome 5

exhibit catlike cry at birth and are cognitively challenged

No oral abnormalities occur

A

Cri du Chat (Cat Cry) Syndrome

73
Q

Results from a deletion on the short arm of chromosome on the short arm of chromosome 4.

most newborns with this syndrome have cleft palate and intelligence quotients of less than 30

A

Wolf-Hirschhorn Syndrome

74
Q

A condition with autosomal-dominant inheritance is transmitted ______ from one generation to the next

A

vertically

75
Q

In autosomal-dominant inheritance when a person has a gene for the condition, the risk of having an effected offspring is ___ for each pregnancy

A

50%

76
Q

An individual can carry a gene with a dominant effect without presenting any clinical manifestations. This is referred as

A

lack of penetrance

77
Q

________ refers to the number of indivuals affected, and ________ pertains to the degree to which an indivual is affected

A

Penetrance

expressivity

78
Q

For autosomal-recessive inheritance, individuals exhibiting an autosomal-recessive trait must be ______ for the gene

A

homozygous

79
Q

Inactivation of one X chromosomes in female embryo

During early development (possibily end of 2nd week) genetic activitty of one x chromosome in each cell of female embryo inactivated

Activated chromosomes dispursed in nucleus

Inactivated chromosomes remain contracted when cell isn’t dividing and forms structure known as Barr body

Barr bodies are ONLY seen in female cells

A

Lyon Hypothesis

80
Q

Amelogenesis imperfect is a condition that illustrates _______ ______

A

genetic heterogeneity

Genetic heterogeneity is used when a condition has more than one inheritance pattern and differences in the degree of clinical manifestations for each of the inherited varieties

81
Q

What refers to characteristics or traits that are inherited by the participation of several genes. Characterisitics such as tooth shape and form and eye color are determined by this.

A

Oligogenic inheritance

82
Q

used to describe a type of hereditary pattern seen when more than one genetic factor is involved and when environmental factors participate in the cause of a condition

A

multifactoral

83
Q

The inheritance pattern of cyclic neutropenia is :

a. autosomal dominant
b. autosomal recessive

A

a. autosomal dominant

84
Q

The disorder cyclic neutropenia is a cyclic decrease in the number of circulating _______ leukocytes (_______)

A

neutrophilic

aka neutrophils

85
Q

What role does dental hygiene care have in cyclic neutropenia?

A

It removes local irritants and maintenance of optimal oral hygiene, reduces the risk of opportunistic infections in patients with cyclic neutropenia.

86
Q

systemic manifestations of cyclic neutropenia include:

A
87
Q

___________ _________ aka Kostmann syndrome, is another variety of neutropenia that is inherited as an autosomal recessive condition. This type is constant not cyclic.

The infraoral manifestations are constantly present.

This is a autosomal-recessive condition

A

Chronic neutropenia

88
Q

has an autosomal-recessive inheritance pattern and is characterized by marked destrution of the periodontal tissues (periodontoclasia) of both dentitions with premature loss of teeth and hyperkeratosis of the palms of the hands and soles of the feet

Parents are generally heterozygous for the trait and unaffected

Long arm of chromosome 11 regions 14 to 21

Extensive bone loss results in teeth that appear to be floating in soft tissue when viewed radiographhically

Primary teeth lost the same sequence of eruption

All permanent teeth are lost before 14 years old, the gingiva then resumes normal appearance.

A

Papillon-Lefevre Syndrome

89
Q

Chronic neutropenia is also know as what?

A

Kostmann syndrome

In this syndrome the neutropenia is constant and not cyclic. Intraoral manifestions are similar to cyclic variety which are severe ulcerative gingivits or gingivostomatitis. In addition to the gingiva, areas of ulceration can occur on the tongue and surfaces of the oral mucosa

90
Q

is autosomal-recessive

characterized by marked destruction of the periodontal tissues (periodontoclasia) of both dentitions with premature loss of teeth and hyperkeratosis of the palms of hands and soles of feet (palmar and plantar hyperkeratosis)

Parents generally heterozygous for the trait

At about 1.5 to 2 years old a marked gingivoperidontal inflammatory process develops, edema, bleeding, alveolar bone resportion, and mobility of teeth with consequent exfoliation

Red, scaly keratosis develops on the palms and soles

Extensive bone loss results in teeth that appear to be floating in soft tissue on radiographs

At about 8 or 9 years old the gingivoperiodontal destruction is repeated in the same manner as occured in the primary dentition. All permanent teeth are lost before 14 years of age.

A

Papillon-Lefevre Syndrome

91
Q

Areas of hyperkeratinization of the palms and soles and marked hyperkeratinization of the labial and lingual gingiva characterize ______ ________ and ______ _______

A

focal palmoplantar

gingival hyperkeratosis

92
Q

areas of hyperkeratizination of palms and soles and marked hyperkeratinzation of the labial and lingual gingiva

autosomal dominant

process increases with age and becomes localized, with calluses forming on the weight-bearing areas

Oral hyperkeratinization is banklike and a few mm in width, follows the normal festooned contour of the gingiva. Free gingiva is NOT affected. Palatal and lingual mucosa occasionally affected

A

Focal Palmoplantar and Gingival Hyperkeratosis

93
Q

The gingival enlargement generally develops early in life, and iwthin a few years the teeth are completely covered.

The extensive gingival enlargement leads to protrustion of the lips

Autosomal-dominany

Dental hygiene care can reduce risk of secondary inflammation and infection in patients

A

Gingival fibromatosis

94
Q

autosomal dominant

in additional to gingival fibromatosis, patients have dysplastic or absent nails and malformed nose and ears because of soft pliable cartilage formation, hepatosplenomgaly (enlarged liver and spleen)

hypoplasia of terminal phalanges of the fingers and toes with a resultant frog like appearance

A

Laband sysndrome

95
Q

autosomal-dominant

Hypertrichosis (excess hair growth)

especially of the eyebrows, extremities, genitals, and sacral region

epilepsy and mental retardation can also occur in this syndrome but are inconsistent features

A

Gingival Fibromatosis with Hypertrichosis Epilepsy and Mental Retardation Syndrome

96
Q

autosomal-dominant

also known as Murray-Puretic-Drescher syndrome

in addition to gingival fibromatosis it is characterized by hypertrophy of the nail beds and multiple hyaline fibrous tumors developing on the nose, chin, head, back, fingers, thighs, and legs

Tumors on the extremities can produce contractures of various joints, including hips, knees, shoulders, and elbows

A

Gingival fibromatosis with multiple hyaline fibromas

97
Q

autosomal dominant

females are generally less severly affected

short arm of chromosome 4

The first clinical manifestation is a progressive bilateral facial swelling that appears when the patient is between 1.5 to 4 years old

involvement of the mandible is most common

Displacement of the eyes is evident when the maxilla is affected

Radiographs of the jaw show typical soap bubble or multilocular appearance.

Ascending ramus and coronoid process of the mandible and extends into the molar and premolar areas but does NOT involve the condyle

Severe cases can involve full mandible but condyle is ALWAYS spared

areas of bone radiolucency occupied bly fibrous connective tissue

Most of these patients have pseudoanodontia due to bone lesion that interfere with tooth development and eruption

A

Cherubism

Oral Pathology (2 decks)

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