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141 Cards in this Set

  • Front
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Genes that are located at the same level or locus in the two chromosomes of a pair and that determine the same funtions or characteristics.
Alleles
Main component of proteins.
Amino acids
Nonsex chromosomes, which are identical for men and women.
Autosomes
Condensed chromatin of the inactivated X chromosome, which is found at the periphery of the nucleus of cells in women.
Barr body
A heterozygous individual who is clinically normal but who can trasmit a recessive trait or characteristic; also, a person who is homozygous for an autosomal-dominant condition with low penetrance.
Carrier
Constricted portion of the chromosome that divides the short arms from the long arms.
Centromere
Either of the two vertical halves of a chromosome that are joined at the centromere.
Chromatid
Vertical sequence of three bases in DNA that codes for an amino acid.
Codon
A substance composed of a double chain of polynucleotides; double helix; basic genetic code for amino acid formation.
DNA - Deoxyribonucleic acid
Having two sets of chromosomes; the normal constitution of somatic cells.
Diploid
In genetics a trait or characteristic that is manifested when it is carried by only one of a pair of homologous chromosomes.
Dominant
Degree of clinical manifestation of a trait or characteristic.
Expressivity
Appearance of the face.
Facies
Spermatozoon or ovum
Gamete
Having more than one inheritance pattern.
Genetic heterogeneity
Cell with a single set of chromosomes; a gamete
Haploid
Individual with two different genes at the allele loci.
Heterozygote
Individual with identical genes at the allele loci.
Homozygote
Abnormally diminished secretion of sweat.
Hypohidrosis
Presence of less than the normal amount of hair.
Hypotrichosis
Photomicrographic representation of a person's chromosomal constitution arranged according to the Denver classification.
Karyotype
Position occupied by a gene on a chromosome.
Locus or loci (pl)
Two step cellular division of the original germ cells, which reduces the chromosomes from 4nDNA to 1nDNA.
Meiosis
Phase of cellular division in which the chromosomes are lines up evenly along the equatorial plane of the cell and in which they are most visible.
Metaphase
Cytoplasmic organelles that have their own DNA in a circular chromosome.
Mitochondrial
Way in which somatic cells divide so that the two daughter cells receive the same number of identical chromosomes.
Mitosis
Permanent change in the arrangement of genetic material.
Mutation
Process of formation of female germ cells (ova).
Oogenesis
Frequency with which a heritable trait is exhibited by individuals carrying the gene or genes that determine that trait.
Penetrance
Entire physical, biochemical, and physiologic makeup of an individual; the observable appearance.
Phenotype
The genetic composition of an individual.
Genotype
Trait or characteristic that shows clinically when a double-gene dose (homozygous) exists in autosomic chromosomes or a single-gene dose exists in males if the trait is X linked.
Recessive
Single strand of polynucleotides found in all cells; production of proteins.
RNA -Ribonucleic acid
Cytoplasmic organelles in which protein are formed on the basis of the geneitc code provided by RNA.
Ribosomes
Process of formation of spermatozoa
Spermatogenesis
Set of signs or symptoms occuring together.
Syndrome
Portion of a chromosome attached to another chromosome.
Translocation
Pair of chromosomes with an identical extra chromosome.
Trisomy
Each cell of the human body with the exception of mature cells (ova and sperm) have how many chromosomes?
46, half derived from father and half from mother.
All cells in the body with the exeption of ova and sperm are called?
Somatic cells
What are the three phases of mitosis and where does DNA replication take place?
Gap 1 (G) Phase
S phase (dna replication)
Gap 2 (G2) phase
What are the four stages of mitosis?
Prophase
Metaphase
Anaphase
Telophase
In this phase of mitosis, chromosomes are arranged almost symmetrically at both sides of the center of the cell.
Metaphase
Long arms are known as?
Q arms
Short arms are known as?
P arms
During which phases of mitosis do chromatids split?
Anaphase and Telophase
In first meiosis, after pairing, the two chromosomes establish actual contact at different locations; these contacts are known as?
Chiasmata
This condition happens when three chromosomes 21 are found instead of two; slanted eyes, gingivoperidontitis, fissured tongue, hypodontia TREATMENT: root planning and scaling.
Down syndrome
Trisomy 21
In which meiosis phase does the chromosome split longitudinally?
Second Meiosis
The inactivation of one of teh X chromosomes in a female embryo was postulated by and is known as?
mary Lyon
Lyon hypothesis
Chromosomes contain DNA; the basic unti of DNA is called ________ and DNA has four bases and they are ____________.
Nucleotide
ADENINE
GUANINE
THYMINE
CYTOSINE
Which base of DNA pairs with which?
A/T adenine to thymine
GC guanine to cytosine
A ____________ is often equated with the unit that forms a polypeptide.
Gene
Responsible for the production of protein and uses the base Uracil which replaces Thymine in DNA
RNA - Ribonucleic acid
What are the four types of RNA?
mRNA messenger rna
tRNA transfer rna
rRNA ribosomal rna
hnRNA heterogeneous rna
Type of RNA which is a blueprint of teh genetic DNA for the coding of proteins.
mRNA
Type of RNA which brings amino acids from the cytoplams to the ribosomes.
tRNA
Type of RNA which combines with several polypeptides to form ribosomes.
rRNA
Type of RNA which is found within the nucleus and is the precursor of mRNA.
hnRNA
Two categories of Chromosome abnormalities.
Gross abnormalities
Molecular abnormalities
Which category of chromosome abnormality occurs at the DNA level and cannot be viewed microscopically?
Molecular abnormality
Gross chromosomal alterations can be observed in a ________.
Karyotype
What type of gross chromosomal abnormalities do these represent: Euploid, Polyploid, and Aneuploid?
Alterations in number
What type of gross chromosomal abnormalities do these represent: Deletion, Inversion, Duplication?
Alterations in structure
A condition that is a result of nondisjunction and it's mostly associated with late maternal age at the time of conception; characterized by slanted eyes, shorter, heart abnormalities, intelligence from near normal to marked handicap.
Trisomy 21 aka Down syndrome
What are the oral manifestations of Down syndrome?
Fissured tongue
Premature loss of teeth
Bone loss
Gingival and Periodontal disease
Hypodontia
Abnormally shaped teeth
Crowding of teeth
70% of live-born infants die withint the first 7 months; cleft lip and palate, microphthalmia or anophthalmia; growth retardation; polydactyly of hands and feet, clenching of the fist with thumb under fingers, heart malformations, anomalies of external genitals; one extra chromosome.
Trisomy 13
One X chromosome missing; webbing of neck; edema of hands and feet, chest is broad with wide-spaced nipples; body hair is sparse; ovaries not developed; primary amenorrhea; lack of Barr bodies.
Turner syndrome
Once extra X chromosome in the ova of older woman; condition cannot be detected until after pubity; taller; 50% have development of female breasts; lower intelligence; smaller testes; underdeveloped maxilla; presence of one Barr body for each extra X chromosome; gynecomastia; karyotype shows two X chromosomes or more.
Klinefelter syndrome
Newborns with a chromosome 5 deletion exhibit a cat like cry at birth and they are mentally retarded; no oral abnormalities.
Cri du chat (Cat Cry) syndrome
Most newborns with the deletion in the short arm of chromosome 4 have a cleft palate and lower intelligence.
Wolf-Hirschhorn syndrome
What are the four possible inheritance patterns?
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
A condition having this type of inheritance is transmitted vertically from one generation to the next.
Autosomal-dominant inheritance
An individual can carry a gene with a dominant effect without presenting any clinical manifestations.
Lack of penetrance
Both parents are carriers of a trait and child is homozygous for the gene; child is affected with that trait.
Autosomal-recessive inheritance
Where do X-linked trait transmittions not able to occur?
Male to male (father to son) transmission because the male's X chromosome is only transmitted to females and not males.
If a mother has a dominant X-linked trait what are the results?
All offsprings are affected because of the dominance of the X chromosome.
If a mother has a recessive X-linked trait what are the results?
50% risk of having affected male and 50% risk of having carrier daughter
What is the Lyon hypothesis?
One of the X chromosomes in the female if genetically cancelled at an early stage in embryonic development.
Recessive means that the individual must be _________ in order for the trait to be seen.
Homozygous
Is blood group O recessive or dominant?
recessive
Is blood group A recessive or dominant?
dominant
Group AB is said to be?
Codominant
The four inheritance patterns refer to the characteristics that are governed by the action of one gene.
Single-gene inheritance
The characteristics or traits that are inherited by the participation of several genes.
Oligogenic inheritance
Most physical characteristics including tooth shape, form and eye color are determined by ___________ inheritance.
Oligogenic inheritance
Responsible gene is ELA-2 (neutrophil elastase gene) chromosome 19; characterized by a decrease in number os neutrophils.
Cyclic neutropenia
What are the clinical manifestations of cyclic neutropenia?
Fever
Malaise
Sore throat
Cutaneous infections
Severe ulcerative gingivitis or gingivostomatitis
Ulcers on the tongue and oral mucosa that have a craterlike appearance; very painful and have bleeding
ORAL MUCOSA & PERIODONTIUM: GINGIVITIS, PERIODONTITIS ULCERS, HEMORRHAGE
A decrease in the number of circulating neutrophils.
Neutropenia
This type of neutropenia is inherited as an autosomal dominant and this type is inherited as an autosomal recessive.
Cyclic - dominant
Chronic - recessive
Chronic neutropenia is also known as ____________.
Kostmann syndrome
What serious conditions can cyclic neutropenia lead to?
Severe peridontal disease
Loss of alveolar bone
Tooth mobility
Exfoliation of teeth
What conditions are treated with periodic G-CSF?
Cyclic and Chronic neutropenia
Marked destruction of periodontal tissues (periodontoclasia); premature loss of teeth (all teeth lost by age 14); hyperkeratosis of teh palms of hands and soles of feet; at 1 1/2 to 2 years of age there is marked gingivoperiodontal inflammation causing edema, bleeming, alveolar bone resorption, mobility of teeth.....teeth are lost, permanent dentition erupts, pattern is repeated.
Papillon-Lefevre syndrome
What is the treatment for papillon-lefevre syndrome?
Retinoid therapy is used for the skin condition but has no effect on periodontal disease.
Hyperkeratinization of the palms and soles; starts at the tips of fingers and toes and extends to the surface of the palms and soles.
Focal Palmoplantar Hyperkeratosis
Hyperkeratinization of the labial and lingual gingiva.
Focal Gingival Hyperkeratosis
This syndrome includes gingival hypertrophy.
Gingival fibromatosis
Condition that causes extensive gingival enlargement which covers teeth completely within a few years.
Gingival hypertrophy
This syndrome includes gingival fibromatosis, dysplastic or absent nails and malformed nose and ears, enlarged liver and spleen (hepatoslenomegaly) and hypoplasia of terminal phalanges of the fingers and toes with a froglike appearance.
MARKED GINGIVAL HYPERPLASIA, ABNORMAL NAILS, SHORT FINGERS AND TOES
Laband syndrome
Syndrome that incluses gingival fibromatosis with hypertrichosis(excessive hair growth), epilepsy, and mental retardation. AFFECTS GINGIVA, HAIR, CENTRAL NERVOUS SYSTEM, GINGIVAL HYPERPLASIA, ABUNDANT BODY HAIR, EPILEPSY
Gingival fibromatosis with hypertrichosis, epilepsy, and mental retardation syndrome.
Hypertrophy of the nail beds and multiple hyaline fibrous tumors developing on the nose, chin, head, back, fingers, thighs, and legs. AFFECTS THE GINGIVA, NAILS, MUCOSA, AND SKIN; GINGIVAL HYPERPLASIA, HYPERTROPHY OF NAILS, MULTIPLE TUMORS
Gingival fibromatosis with multiple hyaline fibromas aka Murray-Puretic Drescher syndrome.
Progressive bilateral facial swelling that appears between the age of 1 1/2 and 4 years of age; mandible is mostly involved, when maxilla is involved there is a displacement of the eyes; radiograph shows soap-bubble appearance of jaws; associated with pseudoanodontia, size of jaw tends to increase rapidly until age 20 to 30, bone appears normal but facial deformity remains. BILATERAL ENLARGEMENT OF FACE; MANDIBLE.
Cherubism
This syndrom affects dwarfs; hands show supernumerary digits; fingernails and toenails are deformed; curved legs; heart defects; anomalies of genitals. AFFECTS GINGIVAL, TEETH, ALVEOLAR RIDGE, HANDS; ABSENT UPPER VESTIBULE, SERRATED LOWER ALVEOLAR RIDGE, POLYDACTYLY.
Ellis-Van Creveld Syndrome
What are the oral manifestations of Ellis-Van Creveld Syndrome?
Fusion of the anterior portion of the maxillary gingiva to the upper lip from canine to canine; v-notch appearance in the midline of upper lip; central incisors generally lacking or replaced by centrally located abnormal tooth; conical shape teeth; enamel hypoplasia; 50% have natal teeth.
In this condition, the cranium develops a mushroom shape because the fontanelles remain open, face appears small; the neck is long and narrow and there is hypoplasia of clavicles. AFFECTS TEETH, CLAVICLES, SKULL; SUPERNUMERARY TEETH, ABSENT CLAVICLES, OPEN FONTANELLES
Cleidocranial dysplasia
What are the oral manifestations of Cleidocranial dysplasia?
Supernumerary teeth
Third dentition
Pseudoanodontia
Lack of cellular cementum
Multiple cysts in association with impacted teeth.
Also known as familial colorectal polyposis; presence of osteomas in various bones, especially the frontal bones, mandible, and maxilla; facial asymmetry; odontomas can occur in the jawbones, especially the mandible, teeth exhibit hypercementosis and fail to erupt; the most serious component of the condition is presence of intestinal polyps which become malignant by age 30. AFFECTS THE MANDIBLE AND MAXILLA; MULTIPLE OSTEOMAS, COLON POLYPS, ADENOCARCINOMA
Gardner Syndrome
The facies shows downward sloping of the palpebral fissures, a hypoplastic nose, hypoplastic malar bones with hypoplasia or absence of zygomatic processm; abnormal and misplaced ears, and a receding chin; the mouth appears fishlike; downward sloping of the lip commisures; lower eyelids show a cleft; lack of lashes; ears may exhibit tags; deafness. MANDIBLE, TEETH, EARS; HYPOPLASTIC MANDIBLE, MALPOSED TEETH, DEAFNESS.
Mandibulofacial dysostosis
What are the oral manifestations of the mandibulofacial dysostosis?
Hypoplastic mandible
Flattened condyles
Malposed teeth
Malocclusion with open bite
High palate
Cleft
Gingival disease
Also known as Gorlin syndrome; mild hypertelorism (increased distance between the eyes); frontal and parietal enlargement and broad nasal root; congenital lesions characterized by skin pigmentation called nevus or nevi (pl) can be found on the nose, eyelids, cheeks, neck, arms, and trunk; they can be flesh colored or brown and develop singly or clusters; palms and soles show small pits that become filled with dirt and appear like dark spots; associated with bifurcation of ribs (hunchback); and medulloblastoma (brain tumor). AFFECTS THE MANDIBLE, MAXILLA, SKIN; MULTIPLE ODONTOGENIC KERATOCYSTS AND BASAL CELL CARCINOMA
Nevoid Basal Cell Carcinoma Syndrome
Congenital lesion characterized by skin pigmentation found in nevoid basal cell carcinoma syndrome.
Nevus
What are the oral manifestations of nevoid basal cell carcinoma syndrome?
Multiple cysts of the jaws
Occasionally ameloblastoma arises in these cysts
Cysts may arise at age 5 or 6 and may interfere with normal development of jawbone and teeth.
The basic defect of this condition involves collagen and results in abnormally formed bones that fracture easily; bowing of legs, curvature of spine; deformity of skull; shortening of arms and legs; the mildest form is blue sclerae.
Osteogenesis Imperfecta
What are the oral manifestations of Osteogenesis imperfecta?
Dentinogenesis imperfecta like condition; primary teeth are affected 80% of patients; teeth appear opalescent or translucent at time of eruption; the enamel is lost.
Bony overgrowth that occurs on the lingual aspect of the mandible; symptomless and generally requires no treatment.
Mandibular tori
Bony overgrowth that occurs on the midline of the palate; mostly affects women; rarely seen in children younger than 14; symptomless.
Torus Palatinus
Tori that generally develop on the buccal aspect of the maxillary alveolar ridge usually molar and premolar area; symptomless.
Maxillary Exostosis
Van der Woude Syndrome includes which conditions?
Cleft lip palate and congenital lip pits.
The labial pits are bilateral and are located near the midline of teh vermillion border of the lower lip; 3 mm or more; occasionally exude saliva; some patients that do not have clefting are missing max lateral or develop peg laterals; associated with cleft uvula and ankyloglossia.
Cleft lip-palate and congenital lip pits syndrome.
Also known as Osler-Rendu-Parkes Weber syndrome; multiple capillary dilations on the skin and mucous membranes; the skin on the face shows numerous pinpoint and spiderlike telangiectases, esp. on lips, eyelids, and around nose; scalp and ears are affected too; lesions are present in nasal mucosa and are responsible for nosebleeds that last several days (epistaxis). AFFECTS MUCOUS MEMBRANES AND SKIN; GINGIVAL BLEEDING
Hereditary Hemorrhagic Telangiectasia.
What are the oral manifestations of the Hereditary Hemorrhagic Telangiectasia?
Telangiectases found on tip and anterior dorsum of the tongue; hemorrahge from sites in oral cavity such as lips and tongue; risk of gingival hemorrhage.
Patients are tall, thick large lips; everted upper eyelids; mucosal nodes are prominent on the lips and anterior dorsal of the tongue; the mucosal neuromas are seen as multiple, mobile, firm lumps covered by normal mucosa; associated with carcinoma of the thyroid; 20% patients die. AFFECTS ORAL MUCOSA, ESP TONGUE; MULTIPLE NODES ON TONGUE TIP, LIPS AND CHEEK MUCOSA.
Multiple Mucosal Neuroma Syndrome
Benign neoplasm that generally develops in ganglia around the adrenal glands; responsible for night sweats, high blood pressure, and episodes of severe diarrhea; increased urinary levels of epinephrine; cutaneuous pigmentation and skeletal abnormalities.
Pheochromocytoma
Multiple neurofibromas that appear as papules and growths of various sizes, on facial skin, esp. eyelids; also develop in the central nervous system, eyes, ears, viscera, and intraosseous locations; mental disability and skeletal anomalies.; cafe au lait pigmentation of skin is present in 90% of patients during the first decade of life.
Neurofibromatosis of Von Recklinghausen
What are the oral manifestations of Neurofibromatosis of Von Recklinghausen
Single or multiple tumors at any location in the oral cavity most frequently on lateral borders of the tongue; gingival neurofibromas can also occur.
Multiple melanotic macular pigmentations around the eyes, nose, and mouth; lips and buccal mucosa; pigmentation of the hands, nasal mucosa, associated with gastrointestinal polyposis. AFFECTS SKIN, ORAL MUCOSA, SMALL INTESTINE; PIGMENTED MACULES IN PERIORAL SKIN AND ORAL MUCOSA.
Peutz-Jeghers Syndrome
Also known as Cannon disease, caused by the mutation of the keratin pair K4 and K13; white, corrugated, soft, folding oral mucosa; buccal mucosa is always affected; thick layer of keratin causes the whitening. AFFECTS BUCCAL MUCOSA; BILATERAL WHITENING OF BUCCAL MUCOSA.
White Sponge Nevus aka Cannon disease and familial white folded mucosal dysplasia
Tooth enamel that does not develop to a normal thickness because of failure of the ameloblasts to lay down enamel matrix properly; pitted, local, smooth, rough, and enamel agenesis. RANDOM PINPOINT PITS ON LABIAL AND LINGUAL
Hypoplastic amelogenesis imperfecta.
Enamel of normal thickness that is poorly calcified; yellow to orange enamel that is very solt and rapidly lost, leaving exposed dentin; moth-eaten appearance; associated with anterior open bite. CHEESY SOFT ENAMEL, ANTERIOR OPENBITE
Hypocalcified amelogenesis imperfecta
Enamel with mottled apperance but normal thickness; composed of large amounts of enamel matrix; enamel is softer than normal; enamel chips easily; associated with snow-capped type which show maxillary teeth with whitish discoloration; enamel in this type is of regular strenght and does not chip off. ENAMEL SOFTER THAN NORMAL CHIPS EASILY
Hypomaturation amelogenesis imperfecta
This type of amelogenesis has yellow to brown teeth; pitted; large pulp chambers and is associated with taurodontic teeth. WHITE DISCOLORATION SURFACE ENAMEL OCCLUSAL ONE THIRD
Hypoplastic-hypomaturation amelogenesis imperfecta
Is also known as hereditary opalescent dentin; teeth are bulbous; brown to brownish-blue; primary teeth are usually affected; dentin is very soft; chipping of enamel, attrition; no pulp or root canals are seen on radiographs; defect lies in odontoblasts that lay down abrnormal matrix and then degenerate.
Dentinogenesis Imperfecta
Dentin Dysplasia is subdivided into type 1 and type 2 which are named?
Type 1 is radicular dentin dysplasia
Type 2 is coronal dentin dysplasia
Teeth with normal crowns, abnormal roots; defect in disturbance of Hertwig's epithelial root sheath; radiographs show partial or total lack of pulp chambers and root canals; teeth may exfoliate prematurely; periapical cysts may be present.
Radicular dentin dysplasia
Translucent teeth with an amber color in primary dentition; radiographs show lack of pulp chambers and small root canals; permanent teeth present normal crown formation with normal color; radiographs show thistle-shaped pulp chambers in single-rooted teeth and bow-tie appearance of the pulp chambers of permanent molars.
Coronal dentin dysplasia
Its major components are hypodontia; less than normal amount of hair; diminished sweat secretion; fevers; some patients die of hyperthermia after prolonged exposure to sun or excercise; marked frontal bossing, saddle nose; protruded lips, complete lack of scalp hair; if hair is present it's blonde, short, fine, and stiff; skin is soft, thin, and very dry.
Hypohidrotic Ectodermal Dysplasia
What are the oral manifestations of hypohidrotic ectodermal dysplasia?
Hypodontia or rarely anodontia
When present incisors and canines have small conical corwns; alveolar bone is formed only when teeth are present; lack of minor salivary glands.
Spontaneous premature shedding of primary teeth especially mandibular incisors with no evidence of periodontal or gingival disease; total lack of cementum and lack of periodontal fiber attachment; improper formation of mature bone; rachitic-like changes such as bowing of legs and multiple fractures. AFFECTS BONES AND TEETH; PREMATURE LOSS OF PRIMARY ANTERIOR TEETH
Hypophosphatasia
Low levels of phosphorus; short stature; bowlegs; large pulp chambers with very long pulp horns; dentin cracks; pulpal infection; periapical abscess; gingival abscess; regional lymphadenitits.
Hypophosphatemic Vitamin D-Resistant Rickets.
Very large pyramid shaped molars with large pulp chambers; forcation of roots is apical; frequently found in Klinefelter syndrome (XXY).
Taurodontism