Pathology Chap 6 (genetics)

f. Syndrome (matching)

1. Set of signs or symptoms occurring together

c. Locus (matching)

2. Position occupied by a gene on a chromosome

a. Autosomes (matching)

3. Nonsex chromosomes that are identical for men and women

d. Mutation (matching)

4. Permanent change in the arrangement of genetic material

e. Phenotype (matching)

5. The observable appearance of an individual

b. Gamete (matching)

6. Spermatozoon or ovum

7. Cri du chat (matching)

Deletion on the short arm of chromosome 5

A patient with Papillon-Lefèvre syndrome displays severe periodontal disease until the last tooth has been exfoliated. The skin manifestations of hyperkeratosis remain present for the life of the patient. a. Both statements are true. b. Both statements are false. c. The first statement is true; the second statement is false. d. The first statement is false; the second statement is true.

a. Both statements are true.

Genetic heterogeneity can cause amelogenesis imperfecta because of its inheritance pattern (X-linked, autosomal recessive, or autosomal dominant). a. Both the statement and reason are correct and related. b. Both the statement and reason are correct but not related. c. The statement is correct, but the reason is not. d. The statement is not correct, but the reason is correct. e. Neither the statement nor the reason is correct.

a. Both the statement and reason are correct and related.

In addition to the development of the neurofibromas, what is the prominent clinical manifestation seen with a patient with von Recklinghausen disease? a. Café au lait pigmentation of the skin b. Spider-like telangiectases on the lips, eyelids, and nose c. Abnormally formed bones that fracture easily d. Blue sclera

a. Café au lait pigmentation of the skin

8. Trisomy 13 (matching)

a. Characterized by multiple abnormalities in various organs

Self-replication, or the ability to duplicate itself, is achievable by a. DNA. b. amino acids. c. meiosis. d. genetic heterogeneity.

a. DNA.

During meiosis, if chromosomes crossing over do not separate and both migrate to the same cell, a germ cell with an extra chromosome results. What is the term to describe this occurrence? a. Nondisjunction b. Chiasmata c. Translation d. Alleles

a. Nondisjunction

Which statement is true regarding management of patients with cyclic neutropenia? a. Preventive antibiotic therapy is instituted to protect against secondary opportunistic infections. b. Treatment should be done when the circulating neutrophil count is low to reduce the risk of complications such as gingival hemorrhage and secondary infection. c. Dental hygiene care increases the risk of opportunistic infections in patients with cyclic neutropenia. d. Patients are treated periodically with vitamin D to reduce symptoms.

a. Preventive antibiotic therapy is instituted to protect against secondary opportunistic infections.

Multiple osteomas and odontomas seen with Gardner syndrome can cause which oral complication? a. Teeth fail to erupt. b. Teeth demonstrate increased mobility. c. Increased supernumerary teeth d. Teeth exfoliate prematurely.

a. Teeth fail to erupt.

Telangiectasias of the oral mucosa for a patient with hereditary hemorrhagic telangiectasia will be especially prominent in which location? a. Tip and anterior dorsum of the tongue b. Palate c. Gingiva d. Buccal mucosa

a. Tip and anterior dorsum of the tongue

Which clinical syndrome caused by gross chromosomal abnormalities is associated with bilateral cleft lip and palate, microphthalmia or anophthalmia, and polydactyly? a. Trisomy 13 b. Trisomy 21 c. Turner syndrome d. Klinefelter syndrome

a. Trisomy 13

Hypohidrotic ectodermal dysplasia is characterized by a. hypodontia, hypotrichosis, and hypohidrosis. b. hyperdontia, hypotrichosis, and hypohidrosis. c. hypodontia, hypertrichosis, and hyperhidrosis. d. hyperdontia, hypertrichosis, and hyperhidrosis.

a. hypodontia, hypotrichosis, and hypohidrosis.

The _____ type of amelogenesis imperfecta is characterized by tooth enamel that does not develop to a normal thickness because of failure of the ameloblasts to lay down enamel matrix properly. a. hypoplastic b. hypocalcified c. hypomaturation d. hypoplastic-hypomaturation

a. hypoplastic

. Which type of RNA carries the message for translation of DNA to ribosomes in the cytoplasm? a. mRNA b. tRNA c. rRNA d. hnRNA

a. mRNA

The areas of bony radiolucency seen in cherubism a. resemble a central giant cell granuloma when seen under the microscope. b. occur in place of the teeth, and radiographs will reveal complete anodontia. c. will increase in size as the patient matures, even until the seventh or eighth decade of life. d. will resolve, leaving the patient without any sign of facial deformity later in life.

a. resemble a central giant cell granuloma when seen under the microscope.

Murray-Puretic-Drescher syndrome is also known as a. cherubism. b. gingival fibromatosis with multiple hyaline fibromas. c. gingival fibromatosis with hypertrichosis, epilepsy, and mental retardation syndrome. d. Laband syndrome.

b. gingival fibromatosis with multiple hyaline fibromas.

A patient with Papillon-Lefèvre syndrome will show a marked gingivoperiodontal inflammatory condition in the primary teeth at about _____ years of age. a. 0 to 0.5 b. 1.5 to 2 c. 4 to 6 d. 8 to 9

b. 1.5 to 2

What age are all of the permanent teeth typically lost in a patient with Papillon-Lefèvre syndrome? a. 10 b. 14 c. 22 d. 28

b. 14

For parents who are carriers of the same recessive trait, the chance of giving birth to an affected child is _____%. a. 0 b. 25 c. 50 d. 100

b. 25

Between the ages of and 4, what is the first clinical sign of cherubism? a. Cleft palate b. Bilateral facial swelling c. Fissured tongue d. Severe mental handicap

b. Bilateral facial swelling

Which is true about making a karyotype? a. Arginine may be used to arrest the mitosis of leukocytes at metaphase. b. Colchicine may be used to arrest the mitosis of leukocytes at metaphase. c. Colchicine may be used to arrest the mitosis of red blood cells at anaphase. d. It is used to evaluate molecular abnormalities in chromosomes.

b. Colchicine may be used to arrest the mitosis of leukocytes at metaphase.

Identify the term that describes a mating or marriage between close relatives: a. Chiasmata b. Consanguinity c. Trisomy d. Translocation

b. Consanguinity

_________ is a consistent feature of mandibulofacial dysostosis. a. Hypertrichosis b. Deafness c. Hypertelorism d. Kyphoscoliosis

b. Deafness

Which syndrome is characterized by a fusion of the anterior portion of the maxillary gingiva to the upper lip from canine to canine? a. Osler-Rendu-Parkes Weber syndrome b. Ellis-van Creveld syndrome c. Gorlin syndrome d. Peutz-Jeghers syndrome

b. Ellis-van Creveld syndrome

Which term describes less than the normal amount of hair? a. Hypoplastic b. Hypotrichosis c. Haploid d. Nondisjunction

b. Hypotrichosis

A karyotype containing XXXY indicates _____ syndrome. a. Down b. Klinefelter c. Turner d. cri du chat

b. Klinefelter

Persons with cyclic neutropenia display a decrease in the number of which circulating cells? a. Chromosomes b. Neutrophils c. Phenotypes d. RNA

b. Neutrophils

__________ is an inherited disorder affecting the gingiva and periodontium, which is characterized by hyperkeratosis of the palms of the hands and soles of the feet. a. Cyclic neutropenia b. Papillon-Lefèvre syndrome c. Gingival fibromatosis d. Laband syndrome

b. Papillon-Lefèvre syndrome

Which statement about the hereditary opalescent form of dentinogenesis imperfecta is true? a. It is associated with taurodontic teeth. b. Teeth have bulbous crowns with a color that varies from opalescent brown to brownish blue. c. Large pulp chambers and root canals are seen on radiographs. d. Roots are long and thick with periapical radiopacities.

b. Teeth have bulbous crowns with a color that varies from opalescent brown to brownish blue.

Each statement is true regarding focal palmoplantar and gingival hyperkeratosis except one. Which one is the exception? a. Marked hyperkeratosis follows the normal contour of the gingiva. b. The free gingiva is highly affected with hyperkeratosis. c. Oral changes start in childhood and increase with age. d. Oral hyperkeratinization is bandlike and a few millimeters in width.

b. The free gingiva is highly affected with hyperkeratosis.

During translation a. polypeptides form an amino acid, and one or more amino acids form a protein. b. amino acids form a polypeptide, and one or more polypeptides form a protein. c. proteins form a polypeptide, and one or more polypeptides form an amino acid. d. amino acids form a protein, and one or more proteins form a polypeptide.

b. amino acids form a polypeptide, and one or more polypeptides form a protein.

Cyclic neutropenia is a. characterized by episodes that generally persist for 21 to 27 days. b. characterized by oral manifestations consisting of severe ulcerative gingivitis or gingivostomatitis. c. caused by a deletion on the long arm of chromosome 11 regions 14-21. d. inherited as an autosomal recessive condition.

b. characterized by oral manifestations consisting of severe ulcerative gingivitis or gingivostomatitis.

The gap 2 (G2) phase of mitosis a. begins when mitotic division ends. b. ends when mitotic division begins. c. precedes the S phase. d. is when replication of DNA takes place.

b. ends when mitotic division begins.

The basic defect found with radicular dentin dysplasia lies in the a. stellate reticulum. b. epithelial root sheath. c. stratum intermedium. d. dental papilla.

b. epithelial root sheath.

Features of second meiosis include a. a replication of DNA before initiation. b. essentially a mitotic division in which each chromosome splits longitudinally. c. formation of four cells from the parent cell. d. the formation of 2n DNA.

b. essentially a mitotic division in which each chromosome splits longitudinally.

For autosomal-dominant inheritance, _____ pertains to the degree to which an individual is affected. a. penetrance b. expressivity c. heterogeneity d. consanguinity

b. expressivity

According to the Lyon hypothesis during the early period of embryonic development, the a. genetic activity of both of the X chromosomes in each cell of a female embryo is inactivated. b. genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated. c. genetic activity of the Y chromosome in each cell of a male embryo is inactivated. d. inactivated chromosome forms a structure known as the pronucleus.

b. genetic activity of one of the X chromosomes in each cell of a female embryo is inactivated.

Intestinal polyps seen with Peutz-Jeghers syndrome are a. associated with inevitable malignant transformation into adenocarcinomas. b. hamartomas. c. caused by the adenomatous polyposis coli (APC) gene located on the long arm of chromosome 5. d. associated with osteomas in various bones, especially the frontal bones, mandible, and maxilla.

b. hamartomas.

Characteristic radiographic oral findings of hypophosphatemic vitamin D-resistant rickets include a. obliterated pulp chambers. b. large pulp chambers with very long pulp horns. c. normal pulp chambers with nonexistent roots. d. large pulp chambers with nonexistent pulp horns.

b. large pulp chambers with very long pulp horns.

Most cases of Down syndrome are associated with a. maternal consumption of alcohol. b. late maternal age at the time of conception. c. estrogen supplements. d. inhalation of vapors from volatile substances.

b. late maternal age at the time of conception.

70. A patient with _____ will have a mouth that appears fishlike, with downward sloping of the lip commissures. a. osteogenesis imperfecta b. mandibulofacial dysostosis c. cherubism d. cleidocranial dysplasia

b. mandibulofacial dysostosis

Chromosomes line up at the equatorial plate during the _____ stage of mitosis. a. telophase b. metaphase c. prophase d. anaphase

b. metaphase

Radicular dentin dysplasia is characterized by teeth with _____ crowns and _____ roots. a. normal; normal b. normal; abnormal c. abnormal; normal d. abnormal; abnormal

b. normal; abnormal

If both loci for blood are AO, the a. person is said to have blood group O. b. person is said to have blood group A. c. person would be homozygous. d. characteristic is recessive.

b. person is said to have blood group A.

Multiple mucosal neuroma syndrome includes multiple mucosal neuromas, medullary carcinoma of the thyroid gland, and a. telangiectases. b. pheochromocytoma. c. gastrointestinal polyposis. d. blue sclera.

b. pheochromocytoma.

The correct order for the stages of mitosis is a. prophase, anaphase, metaphase, telophase. b. prophase, metaphase, anaphase, telophase. c. prophase, metaphase, telophase, anaphase. d. metaphase, prophase, telophase, anaphase.

b. prophase, metaphase, anaphase, telophase.

After metaphase of the first meiotic division a. the chromosomes split at the centromere and separate from one another. b. the chromosomes do not split at the centromere but separate from one another. c. each member of the pair migrates to one of the new cells, each of which contains 46 chromosomes but twice the final amount of DNA. d. each member of the pair migrates to one of the new cells, each of which contains 23 chromosomes but half the final amount of DNA.

b. the chromosomes do not split at the centromere but separate from one another.

A codon in DNA is formed by a sequence of _____ bases. a. two b. three c. four d. six

b. three

Cases of facial clefting occur in about 1 in _____ births. a. 80 b. 200 c. 800 d. 2000

c. 800

Which statement is correct concerning chromosomes? a. Chromosomes are located in the of the cell. b. Mature germ cells (ova and spermatozoa) contain 46 chromosomes. c. Chromosomes can only be seen clearly under a microscope when the nucleus and cell are dividing. d. Chromosomes contain RNA, which directs the production of amino acids, polypeptides, and proteins by the cell.

c. Chromosomes can only be seen clearly under a microscope when the nucleus and cell are dividing.

Which disorder affecting the jaw bones and facies is characterized by fusion of the anterior portion of the maxillary gingiva to the upper lip from canine to canine? a. Gardner syndrome b. Mandibulofacial dysostosis c. Ellis-van Creveld syndrome d. Cherubism

c. Ellis-van Creveld syndrome

Frontal bossing, depressed nasal bridge, protuberant lips, and almost complete lack of scalp hair are characteristic of a person with which condition? a. Hypophosphatemic vitamin D-resistant rickets b. Hypophosphatasia c. Hypohidrotic ectodermal dysplasia d. Dentin dysplasia

c. Hypohidrotic ectodermal dysplasia

Your patient presents with hypodontia, hypohidrosis, and nearly complete lack of sweat and sebaceous glands. Also noticeable is a lack of eyelashes and eyebrows. Which hereditary condition is present? a. Amelogenesis imperfecta b. Osteogenesis imperfecta c. Hypohidrotic ectodermal dysplasia d. Dentin dysplasia

c. Hypohidrotic ectodermal dysplasia

Snow-capped amelogenesis imperfecta is a variation of type _____ amelogenesis imperfecta. a. I: hypoplastic b. II: hypocalcified c. III: hypomaturation d. IV: hypoplastic-hypomaturation

c. III: hypomaturation

The gap 1, S, and gap 2 phases are part of what type of cell division? a. First meiosis b. Second meiosis c. Mitosis d. Hypohidrosis

c. Mitosis

10. Turner (matching)

c. Nondisjunction of the X chromosome in the paternal gamete

__________ is characterized by very large, pyramid-shaped molars with large pulp chambers. a. Amelogenesis imperfecta b. Dentinogenesis imperfecta c. Taurodontism d. Dentin dysplasia

c. Taurodontism

Genetic risk is a mathematical estimate of probability governed by chance. A condition having autosomal-dominant inheritance is transmitted vertically from one generation to the next with males affected more than females. a. Both statements are true. b. Both statements are false. c. The first statement is true; the second is false. d. The first statement is false; the second is true.

c. The first statement is true; the second is false.

In DNA a sequence of thymine, adenine, and cytosine (TAC) is always matched by a. adenine, cytosine, and guanine (ACG). b. guanine, adenine, and cytosine (GAC). c. adenine, thymine, and guanine (ATG). d. a five-carbon sugar and a phosphate.

c. adenine, thymine, and guanine (ATG).

A mother who is a carrier of an X-linked recessive trait has a 50% risk of giving birth to a(n) a. affected son or daughter. b. carrier son or daughter. c. affected son or a carrier daughter. d. carrier son or an affected daughter.

c. affected son or a carrier daughter.

A man's X chromosome is transmitted to _____ of his daughters and _____ of his sons. a. none; none b. none; all c. all; none d. all; all

c. all; none

Genes that are located at the same level in homologous chromosomes and that dictate the same functions or characteristics are termed a. consanguineous. b. chromatids. c. alleles. d. precocious.

c. alleles.

Euploid, polyploid, and aneuploid are all terms relating to a(n) _____ of chromosomes. a. alteration in the structure b. abnormal rearrangement c. alteration in the number d. duplication

c. alteration in the number

Pegged or absent maxillary lateral incisors a. affect the secondary but not primary dentition. b. have a prevalence of 10% in the white population. c. are accompanied by congenitally lacking premolar teeth in 10% to 20% of the population. d. are generally an autosomal-recessive trait with variable expressivity.

c. are accompanied by congenitally lacking premolar teeth in 10% to 20% of the population.

White sponge nevus is characterized by a white, corrugated, soft, folding oral mucosa always affecting _____ mucosa. a. attached b. lingual c. buccal d. tonsillar

c. buccal

The constriction present in all chromosomes that joins the short and long arms is termed a. trisomy. b. nondisjunction. c. centromere. d. translocation.

c. centromere.

Points of contact between the chromatid of one chromosome and the chromatid of the other chromosome of a pair, where crossing over and exchange of chromosome segments occur are termed a. first meiosis. b. second meiosis. c. chiasmata. d. interpolation.

c. chiasmata.

Cyclic neutropenia is so named because this condition a. has more than one inheritance pattern. b. has environmental factors that participate in its cause. c. displays a decrease in the number of neutrophils that occur in cycles of 21 to 27 days. d. allows persons to carry a gene with a dominant effect without any clinical manifestations.

c. displays a decrease in the number of neutrophils that occur in cycles of 21 to 27 days.

Hypophosphatasia is characterized by a. an increase in serum alkaline phosphatase levels. b. abnormal formation of enamel and dentin. c. exfoliation of teeth without evidence of periodontal or gingival disease. d. an autosomal-dominant inheritance pattern.

c. exfoliation of teeth without evidence of periodontal or gingival disease.

The majority of patients with Turner syndrome have a _____ phenotype and _____ chromosomes. a. male; 47 b. female; 46 c. female; 45 d. male; 44

c. female; 45

A patient with Ellis-van Creveld syndrome will a. show polydactyly on the radial side of the forearm. b. be a little person. c. lack an anterior maxillary vestibular sulcus. d. lack a posterior mandibular sulcus.

c. lack an anterior maxillary vestibular sulcus.

Hard, dense, cortical bone on the buccal aspect of the alveolar ridge near the maxillary first molar would be termed a a. radiolucent torus palatinus. b. radiopaque torus mandibularis. c. maxillary exotosis. d. radiolucent exostosis.

c. maxillary exotosis.

Oral manifestations of nevoid basal cell carcinoma syndrome consist of multiple cysts of the jaws that are a. central giant cell granulomas. b. peripheral giant cell granulomas. c. odontogenic keratocysts. d. calcifying epithelial odontogenic tumors.

c. odontogenic keratocysts.

Early diagnosis of pheochromocytoma is imperative because of the high malignant potential of a. squamous cell carcinoma. b. basal cell carcinoma. c. thyroid carcinoma. d. osteogenic sarcoma.

c. thyroid carcinoma.

The primary dentition of a patient with coronal dentin dysplasia will appear a. normal. b. opaque with an amber color. c. translucent with an amber color. d. translucent with a blue color.

c. translucent with an amber color.

Primitive germ cells have _____ chromosomes and are termed _____. a. 23; diploid b. 46; haploid c. 23; haploid d. 46; diploid

d. 46; diploid

Gingival and periodontal disease has been reported in _____% of individuals with Down syndrome. a. 10 b. 25 c. 50 d. 90

d. 90

Blood group _____ is an example of gene codominance. a. O b. A c. B d. AB

d. AB

Which statement is true regarding gross chromosomal abnormalities involving alterations in the number of human chromosomes? a. Aneuploidy is a complete second set of chromosomes, meaning a total of 46. b. Polyploidy is any number of chromosomes that do not represent an exact multiple of the total chromosome complement. c. Euploidy is a complete second set of chromosomes, meaning a total of 46. d. Aneuploidy may be represented by trisomy and monosomy.

d. Aneuploidy may be represented by trisomy and monosomy.

A patient with unilateral or bilateral aplasia of the clavicles will have which characteristics? a. Hyperplastic paranasal sinuses b. Short and wide neck c. Mushroom shape of the cranium because of premature closure of the fontanelles d. Be able to approximate their shoulders to the midline

d. Be able to approximate their shoulders to the midline

Each statement about chromosomes is true except one. Which one is the exception? a. Chromosomes are located in the nucleus of the cell. b. Hereditary units called genes are found on chromosomes. c. Chromosomes can only be seen clearly under a microscope when the nucleus and cell are dividing. d. Chromosomes contain RNA, which directs the production of amino acids, polypeptides, and proteins by the cell.

d. Chromosomes contain RNA, which directs the production of amino acids, polypeptides, and proteins by the cell.

Which statement is true concerning hemophilia A? a. It is inherited as an X-linked dominant condition. b. It is inherited as a Y-linked recessive condition. c. All X chromosomes are abnormal in the female carrier. d. Female carriers tend to bleed more than usual after extraction of teeth or scaling and curettage.

d. Female carriers tend to bleed more than usual after extraction of teeth or scaling and curettage.

Which syndrome is characterized by intestinal polyps, which become malignant at age 30 and after? a. Osteogenesis imperfecta b. Nevoid basal cell carcinoma syndrome c. Mandibulofacial dysostosis d. Gardner syndrome

d. Gardner syndrome

Where is the most common intraoral site for the development of neurofibromas in a patient with von Recklinghausen disease? a. Floor of the mouth b. Labial commissures c. Palate d. Lateral borders of the tongue

d. Lateral borders of the tongue

Oral manifestations seen with a person with Down syndrome include the following except one. Which is the exception? a. Fissured tongue b. Gingival and periodontal disease c. Hypodontia d. Macrodontia

d. Macrodontia

Which syndrome is characterized by multiple melanotic macular pigmentations of the skin and mucosa, which are associated with gastrointestinal polyposis? a. Osler-Rendu-Parkes Weber syndrome b. Van der Woude syndrome c. Gorlin syndrome d. Peutz-Jeghers syndrome

d. Peutz-Jeghers syndrome

Which statement is true of oogenesis? a. Oogenesis starts around the time of puberty. b. The second meiosis is completed at the beginning of ovulation. c. Nondisjunction is more prevalent in male spermatogenesis than in female oogenesis. d. The older the woman, the greater the chance of shedding a trisomic ovum.

d. The older the woman, the greater the chance of shedding a trisomic ovum.

The basic defect responsible for osteogenesis imperfecta is produced by various mutations affecting the genes that encode type I collagen, resulting in a. lack of otic ossicles. b. unilateral or bilateral aplasia or hypoplasia of clavicles. c. overgrowth of cortical bone in the midline of the palate. d. abnormally formed bones that fracture easily.

d. abnormally formed bones that fracture easily.

For autosomal-dominant inheritance a. males will be affected more often than females. b. the risk of having an affected offspring is 25% when a person has a gene for the condition. c. all of the offspring will be affected by a condition that is transmitted by autosomal-dominant inheritance. d. an individual can carry a gene with a dominant effect without presenting any clinical manifestations.

d. an individual can carry a gene with a dominant effect without presenting any clinical manifestations.

Neurofibromatosis of von Recklinghausen is characterized by a. multiple neurofibromas appearing as macules of various sizes. b. inevitable malignant transformation. c. oral involvement in about 90% of patients. d. café au lait pigmentation of the skin in 90% of patients.

d. café au lait pigmentation of the skin in 90% of patients.

Cherubism a. is inherited as an autosomal-dominant disease with marked penetrance in females and variable expressivity and incomplete penetrance in males. b. most frequently involves the maxilla. c. is characterized by a unilateral facial deformity. d. reveals a typical "soap-bubble" or multilocular appearance on radiographic images.

d. reveals a typical "soap-bubble" or multilocular appearance on radiographic images.

Inactivation of the genetic activity of one of the X chromosomes in each cell of a female embryo during the early period of embryonic development is referred to as a. Barr body. b. nucleotide. c. karyotype. d. the Lyon hypothesis.

d. the Lyon hypothesis.

Ribonucleic acid (RNA) contains uracil rather than the base _____ found in DNA. a. adenine b. guanine c. cytosine d. thymine

d. thymine

9. Klinefelter (matching)

e. Fertilized ovum has two X chromosomes plus a Y chromosome