chapter six Flashcards
genetics
the inheritance and expression of inherited traits
syndrome
a distinctive association of signs and symptoms occurring together
phenotype
the physical, biochemical, and physiologic traits of an individual
genes
the hereditary units transmitted from one generation to another
genome
collection of all genes
what does a genome consists of
dna, nucleotide, genetic code, dna coiling
what is a nucleotide formed by
nitrogen-containing base, five carbon sugar and phosphate
chromosomes
small bodies in the nucleus of a cell that carry the chemical instructions for the reproduction of a cell
four bases in dna
adenine, guanine, thymine, cytosine
four types of rna
messenger rna, transfer rna, ribosomal rna, heterogenous nuclear rna
messenger rna
blueprint for coding of proteins
transfer rna
transfers amino acids from the cytoplasm to the mrna
ribosomal rna
combines iwth several polypeptides to form ribosomes
herterogenous nuclear rna
precursor to mrna
what causes trisomy 21
extra copy of chromosome 21
what causes turner syndrome
one x chromosome only
what causes klinefelter syndrome
xxy chromosome
what causes cri du chat and wolf hirschhorn
deletion, cri du chat = 5 wolf hirschhorn = 4
cyclic neutropenia
decrease in the number of neutrophils and occurs in cycles every 21 - 27 days lasting 2 - 3 days
what are oral manifestations for cyclic neutropenia
severe ulcerative gingivitis and areas of ulceration on the tongue and surfaces of the oral mucosa
what are the autosomal recessive syndromes
chronic neutropenia, papillon lefevre, hypophophatasia
papillon lefevre syndrome
destruction of periodontal tissue and results in the loss of both teeth in both dentitions prematurely
oral manifestations of papillon lefevre
periodontal inflammation, edema, bleeding, alveolar bone resorption and mobility
what is ehler danlos caused by and what is it characterized by
defects in structure or processing of collagen and weak joints and skin hyperelasticity
oral manifestations of ehler danlos
delicate mucosa and weakened gingival tissue resulting in bop
gorlin sign
tip of tongue can touch the nose associated with ehlers danlos
another name for gingival fibromatosis with multiple hyaline fibromas
murray puretic drescher
what is cherubism characterized by
bilateral facial swelling has soap bubbles in radiograph
ellis van creveld
supernumerary digits and fingers and toenails are hypoplastic and deformed
oral manifestation of ellis van creveld
fusion of the anterior portion of the max gingiva to the upper lip
cleidocranial dysplasia
cranium develops into a mushroom shape and can have third dentition
another name for gardener syndrome
familial adenomatous polyposis
gardner syndrome
presence of osteomas in various bones of the skull
another name for mandibulofacial dysotosis
treacher collins
oral manifestations of mandibulofacial dysotosis
hypoplastic mandible with flattened condyle and coronoid process
another name for nevoid basal cell carcinoma
gorlin syndrome
oral manifestations of nevoid basal cell carcinoma
multiple cysts of the jaw
cause of osteogenesis imperfecta
mutation of genes for collagen
oral manifestation for osteogensis imperfecta
dentinogenesis imperfecta
what is hereditary hemorrhagic telangiectasia characterized by
multiple capillary dilation of the skin
what syndrome does the skin turn a color like coffee with milk
neurofibomatosis type one
neurofibromatosis type ii
bilateral schwannomas of vestibular nerve
four types of amelogenesis imperfecta
hypoplastic, hypocalcified, hypomaturation, hypoplastic-hypomaturation
hypoplastic
enamel is not thick
hypocalcified
enamel is thick but poorly calcified
hypomaturation
enamel is mottled appearance
hypoplastic - hypomaturation
yellow to brown color and pitted
what is the most severe form of ectodermal dysplasia
hypohidrotic ectodermal dysplasia
