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genetics inheritance and expression of inherited traits
syndrome distinctive association of signs and symptoms occurring together some syndromes inherited, others aren't
genotype the genetic composition
phenotype observable appearance (expression of genotype) refers to physical, biochemical, physiologic traits of individual
where are genes found? on chromosomes
where are chromosomes found? nucleus of the cell
what does DNA do? directs production of amino acids, polypeptides and proteins by the cell
(T/F)DNA has the ability to duplicate itself True..duh
what are the two categories of normal cell division? mitosis, meiosis
what is mitosis? process of cellular division in a somatic cell during a part of the cell's life span called mitotic cycle
what are somatic cells? all cells in the body except ova and spermatozoa
what are the 4 stages of mitosis? prophase, metaphase, anaphase,telophase
what happens during prophase? chromosomes lining up toward metaphase
what happens during metaphase? chromosomes at the equatorial plane of the cell long and short arms joined at centromere ea. identical half is called chromatid
what happens during anaphase? chromatids are in process of splitting
what happens during telophase? cytokinesis occurs
what is meiosis(reduction division), and how many chromosomes are left afterwards? 2-step process of cell division primitive germ cells reduce their chromosome number by half and become germ cells, 46 chromosomes are left
what is a diploid? primitive germ cells that have 2 chromosomes for ea. pair
what is a haploid? mature germ cells that have half the number of germ cells
meiosis-oogenesis process of formation of female germ cells (ova)
meiosis-spermatogenesis process of formation of spermatozoa (sperm)
Lyon hypothesis during early period of embryonic development, genetic activity of one of the X chromosomes in ea. cell of a female embryo is inactivated
what is a Barr body and how does it appear condensed chromatin of inactivated X chromosome, which is found at the periphery of nucleus of cells in women appears as dark dot at periphery of nucleus
what are the molecular compositions of chromosomes? Deoxyribonucleic acid Ribonucleic acid
what is DNA? template that carries all genetic information
nucleotide basic unit of DNA
what are the 4 bases found in DNA, and what are their pairings? Adenine/Thymine Guanine/Cytosine
what shape is DNA? double helix
codon a sequence of 3 bases
what does a codon code for? amino acid
what do one or more polypeptides form? protein
what do several amino acids form? polypeptide
what shape is RNA? single strand
how is mitochondrial DNA inherited? maternally -passed from mother to offspring regardless of sex
what are the 4 types of RNA? Messenger, Transfer, Ribosomal, Heterogeneous
what does mRNA do? carries message for DNA to ribosomes in cytoplasm
what does tRNA do? transfers amino acids from cytoplasm to mRNA
what does rRNA do? combines w/ several polypeptides to form ribosomes
what does hnRNA do? precursor to mRNA, found w/in nucleus
what are name 5 clinical syndromes resulting from gross chromosomal abnormalities? trisomy 21, trisomy 13, turner syndrome, klinefelter syndrome, cri du chat syndrome/wolf-hirschhorn syndrome
what is the most frequent trisomy? trisomy 21, Down syndrome
what are characteristics of trisomy 21? slanted eyes, fissured tongue, hypodontia (abnormally shaped teeth, crowded teeth) gingival + perio. dis. 90% >30% have <3 abnormalities
what are name 5 clinical syndromes resulting from gross chromosomal abnormalities? trisomy 21, trisomy 13, turner syndrome, klinefelter syndrome, cri du chat syndrome/wolf-hirschhorn syndrome
what is the most frequent trisomy? trisomy 21, Down syndrome
what are characteristics of trisomy 21? slanted eyes, fissured tongue, hypodontia (abnormally shaped teeth, crowded teeth) gingival + perio. dis. 90% >30% have <3 abnormalities
what is trisomy 13 characterized by? multiple abnormalities in various organs characteristics: bilateral cleft lip+palate, microphthalmia/anophthalmia(small eyes/no eyes)
how many die w/in the first 7 months of life with trisomy 13? 70%
what is Turner syndrome? female karyotype, one X chromosome charact.:short stature, webbing of neck, edema of hands and feet smear lack Barr bodies
characteristics of Klinefelter syndrome from nondisjunction of X chromosome male phenotype maxilla underdeveloped XXXY, XXXXXY- ># of chromosomes, more pronounced clinical manifestations
what are 2 syndromes cause by deletion? cri du chat and wolf-hirschhorn
what is cri du chat syndrome? deletion on short arm of chromosome 5 mental retardation
what is wolf-hirschorn syndrome? deletion on short arm of chromosome 4 cleft palate, IQ <30
name the patterns of inheritance autosomal dominant inheritance, autosomal recessive inheritance, x-linked inheritance (dominant, recessive-Lyon hypothesis), genetic heterogeneity
4 examples of molecular chromosomal abnormalities inherited disorders affecting the ginigva and periodontium, inherited disorders affecting the jawbones and face, inherited disorders affecting the oral mucosa, inherited disorders affecting the teeth
name inherited disorders affecting the ginigva and periodontium cyclic neutropenia, papillon-lefevre syndrome, focal palmoplantar+ginigval hyperkeratosis, ginival fibromatosis,laband syndrome,ginigval fibromatosis w/ hypertrichosis epilepsy+mental retardation syndrome,ginigval fibromatosis w/ multiple hyaline fibromas
what is cyclic neutropenia? cyclic decrease # neutrophils, 21-27 days cycles, neutropenia 2-3 days
manifestations of cyclic neutropenia ulcerative gingivitis, hypertrophic gingivitis, can lead to perio. dis., fever, malaise, sore throat
what is the tx for cyclic neutropenia? antibiotics, frequent apptmnts to remove local irritants and reduce oppertunistic infections only treat when in remission
what is papillon-lefevre syndrome? autosomal recessive destruction of perio. tiss. (both dentitions), palmar+plantar hyperkeratosis, premature tooth loss by 14 yrs
what is the tx for papillon-lefevre syndrome? retinol controls/improves hyperkeratinization
what is focal palmoplantar and ginigval hyperkeratosis autosomal dominant hyperkeratinization of palms, soles, labial and lingual ginigva mccallons festoons, free gingiva and oral cavity normal
what is type of inheritance is isolated gingival fibromatosis? autosomal dominant no other assoc. abnormalities
what is the tx for gingival fibromatosis? frequent apptmnts/intervals
what is Laband syndrome-gingival fibromatosis? autosomal dominant, ginigval fibromatosis, fucked up ear and nose, frog=like toes and fingers
what is gingival fibromatosis w/ hypertrichosis epilepsy and mental retardation syndrome autosomal dominant hypertrichosis-excessive hair growth (eyebrows, extremities, genitals, sacral region)
what is gingival fibromatosis w/ multiple hyaline fibromas? autosomal dominant hypertrophy of nail beds multiple hyaline fibrous tumors nose,chin,head,back,fingers,thighs,legs tumors--->shortening muscles
ginigval fibromatosis is also known as what? Murray Puertic Drescher syndrome
name the inherited disorders affecting the jawbones and face cherubism,ellis-van creveld syndrome,cleidocranial dysplasia,gardner syndrome, mandibulofacial dysotosis,nevoid basal cell carcinoma syndrome,osteogenesis imperfecta, torus mandibularis, torus palatinus, maxillary exotosis
what is cherubism? autosomal dominant marked penetrance in males bilaterial facial swelling 1.5-4year old CONDYLES NEVER AFFECTED pseudoanodontia facial deformity for life
how does cherubism appear radiographically? "soap bubble" or multiocular appearance -areas occupied by fibrous CT w/ multinucleated giant cells
what is chondroectodermal dysplasia? autosomal recessive affects dwarfs,polydactylylism Vshaped notch in upperlip replaced by abnormal centrally located tooth most teeth conical shape w/ enamel hypoplasia fusion of anterior portion of max. gingiva to lip from canine to canine
what is chondroectodermal dysplasia also known as? ellis-van creveld syndrome
what is cleidocranial dysplasia? autosomal dominant fontanellas remain open, cranium develops mushroom shape premaxilla underdeveloped=pseudoprognathism supernumerary teeth, mutliple cysts b/c impacted teeth
what is gardner syndrome? osteomas possible hypercementosis odontomas intestinal plays malignant at +30yrs
what is gardner syndrome also known as? familial colorectal polyposis
mandibulofacial dysostosis AD incomplete penetrance mouth is fishlike deaf b/c lack of otic ossicles high palate
nevoid basal cell carcinoma syndrome *Gorlin Syndrome AD high penetrance mild hypertelorism+prognathism, affects nose, eyelids, cheeks head/neck observed on skin multiple cysts in jaw
osteogenesis imperfecta 70% AR mutations after collagen blue sclera teeth appear translucent enamel breaks off from defective dentin
torus mandibularis AD unilaterl, bilateral may be multilobuated
torus palatinus AD most common in females may be multilobular
maxillary exotosis AD buccal aspects of maxilla <common on mandbile
inherited disorders affecting the oral ucosa isloated cleft palate+lip w/ or w/o cleft palate hereditary hemorrhagic telangiectasia multiple mucosal neuroma syndrome neurofibromatosis of Von Recklinghausen peutz-jeghers syndrome white sponge nevus
isolated cleft palate+lip w/ or w/o cleft palate AD may occur as component syndrome cleft lip-palate+lip puits most common syndrome
congenital lip pits 3mm diameter bilateral may exude saliva
hereditary hemorrhagic telangiectasia aka. Osler Rendu Parkes Weber Syndrome AD multiple capillary dilations of skin+mucocus membranes bleeding
neurofibromatosis of Von Recklinghausen AD Cafe au lait pigmentation tumors on lateral borders of tongue
peutz-jeghers syndrome AD multiple malignant macular pigmentations (skin, nose, eyes_ assoc. w/ gastrointerestinal polyposis
white sponge nevus aka. cannon disease, familial white folded mucosal dysplasia AD whtie, corrugated, soft, floding, buccal mucosa
inherited disorders affecting the teeth amelogenesis imperfecta dentiogensis imperfecta dentin dysplasia hyphidrotic ectodermal dysplasia hypophosphatasia hypophosphatemic vitamin D-resistant rickets pegged/absent max. lateral incisors taurodontium
amelogensis imperfecta affects enamel NO assoc. w/ systemic defects
Created by: 100000001783325