Section 1
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What main systems does cystic fibrosis tend to affect?
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Date created
Mar 1, 2020
Cards (240)
Section 1
(50 cards)
What main systems does cystic fibrosis tend to affect?
respiratory GI
What are the 4 stages of mitosis?
prophase metaphase anaphase telophase
How many pairs of genes are sex chromosomes?
1
achondroplasia dwarfism
If the alleles are different then the person is ____________.
heterozygous
What disease is usually Eastern Jews in origin and causes neurological damage and death in infants with a cherry red spot in the retina?
Tay-Sachs
How does sickle cell anemia look radiographically?
bone has loss of trabeculation
What are the alternative forms of genes called?
alleles
What type of cell division do somatic cells undergo?
mitosis
What describes when an individual with a dominant gene doesn't present a clincal manifestation?
lack of penetrance
Other alleles are ________ and only manifest themselves when the person is homoxygous for the trait.
recessive
What 2 things can influence phenotypes?
genetics environment
How many pairs of genes are autosomes?
22
Genes for a trait occupy a specific location on chromosomes called a __________.
locus
A person who has only one gene (heterozygous) for sickle cell anemia is more resistant to what?
malaria
What is the technical name for the ovum and sperm in the 2nd phase of meiosis when they have doubled to 92 chromosomes?
oocyte spermatocyte
Alleles that always produce their trait when inherited is called what?
Dominant
What is the disease with abnormal hemoglobin that causes deformed red blood vessles, anemia, and damages to blood vessels?
sickle cell anemia
What is the physical, biochemical & physiologic makeup of an individual?
phenotype
Due to a modifying gene which changes the degree to which an individual is affected, this is called ________.
expressivity
Hemolysis of RBCs cause what?
anemia
What are examples of autosomal dominant disorders?
achondroplasia polydactyly marfan syndrome focal palmoplantar gingival hyperkeratosis gingival fibromatosis tori peg laterals
What is the technical name for the ovum and sperm in the 1st phase of meiosis when they have their normal 46 chromosomes?
oogonia spermatagonia
What type of antibodies does type B blood type have?
type A
What are sperm and egg cells called?
germ cells
All of the cells in the body except for the sperm and egg cells are called what?
somatic cells
What type of disease is only manifested when a person is homoxygous for the defective allele?
autosomal recessive
What is the technical name for the ovum and sperm in the 3rd phase of meiosis when they are mature and have only 23 chromosomes?
ova spermatozoa
T or F Two people can have the same phenotype, but different genotypes?
true
marfan syndrome
What blood type is the universal donor?
O
What are 3 examples of autosomal recessive diseases?
cystic fibrosis sickle cell anemia Tay-Sachs
The complete chromosomal composition of the nucleus is called the ___________.
keryotype
What type of antibodies does type AB blood type have?
no antibodies
What is the genetic makeup?
genotype
What is the disease that affects glands that secrete mucous?
cystic fibrosis
What is the dysfunction of connective tissue, specifically the protein fibrillin?
marfan syndrome
What type of antibodies does type A blood type have?
type B
What type of antibodies does type O blood type have?
Type A & B antibodies
If one parent is heterozygous with a defective allele and the other parent is normal what percentage does the child have at being affected?
50%
The defective dominant allele is usually transmitted by a parent who is ______.
heterozygous
What type of disease as the clinical symptomes of shortness of breath, weakness, nausau, fatigue, and joint pain?
sickle cell anemia
What is the term for the frequency with which a heritable trait is exhibitied by an individual carrying the gene or genes that determine that trait?
penetrance
polydactyl
What type of disorder is from cartilage formation being defective with long bones being short, trunk is normal length, head is large and forehead is prominent?
achondroplasia
What blood type is the universal recipient?
AB
What is the term for extra digits on feet and hand?
polydactyl
What type of cell division does germ cells undergo?
meiosis
If two of the same alleles is inherited the person is ____________.
homozygous
Where are chromosomes found?
nucleus of cell
Section 2
(50 cards)
What does cherubism appear as radiographically?
multiocular radiolucencies filled with connective tissue
What age does patients with papillon-lefevre syndrome lose all of their permanent teeth?
14 years
What 2 categories can chromosomal abnormalites be divided into?
structure number
Can congenital disorders be passed onto offspring genetically? Why?
no happened after already formed
What occurs as a bandlike area of hyperkeratosis of the attached gingiva where patients will experience hyperkeratinization of the palms of the hands and soles of the feet, and shows autosomal dominant inheritance patterns?
focal palmoplanter & gingival hyperplasia
What type of disease is a defect in the long arm of X chromosome that leads to developmental disorders and mental impairment with hand flapping and nail biting?
fragile X syndrome
What is the disruption of the cartilage formation with shortening of extremities causing dwarfs, mildly retarted, polydactyly, and congenital heart disease with fusion of gingiva to upper lip from canine to canine and missing central incisors?
chondroectodermal dysplasia ellis van creveld syndrome
What disease has osteomas, odontomas, and intestinal polys that can become malignant by age 30?
gardner syndrome
What disease is the aplasia or hypoplasia of the clavicles where the patient can approximate the shoulders with supernumerary teeth, that interfere with the normal eruption causing pseudoanodontia?
cleidocranial dysplasia
Fragile X Syndrome
What disease is a cyclic decrease in the number of neutrophils occuring in intervals of 21 to 27 days with neutropenia generally persisting for 2 to 3 days?
cyclic neutropenia
What is the benign tumors containing tooth structure?
odontomas
What type of hemophilia is least common and a defect in Factor IX and is also known as Christmas disease?
hemophilia B
What is the term for the failure of a chromosome from seperating causing a triplicate and an extra autosomal chromosome?
trisomy
Tori is an autosomal dominant pattern and doesnt appear before what ages?
14 to 15
What disease has the symptoms of abnormal muscle development and wasting which causes symptoms including muscle weakness, lack of contraction of muscles, heart muscle affected causing death?
duchenne muscular dystrophy
Waht type of syndrome is a result of the presence of only one x chromosome where the person appears to be female but ovaries do not develop (no menstration) with congenital heart disease, short stature, or webbing of the neck?
turners syndrome
gingival hyperplasia
In sex linked inheritance, if a female has the gene on one of her x chromosomes, but doesn't manifest the full effect of the disease, she is a ____.
carrier
cleidocranial dysplasia
What disease has systemic manifestations of fever, malaise, sore throat, and occassional cutaneous infections with severe ulcerative gingivitis, with ulcerations on tongue and mucosa that is painful and bleeding?
cyclic neutropenia
What disease is a cleft lip and palate, small or no eyes, polydactyly of hands and feet, clenching of the fist with the thumb under the fingers, 70% die within the first 7 months of life?
trisomy 13
What type of disease is caused by a missing sex chromosome or having an extra chromosome?
abnormalities in sex chromosomes
papillon-lefevre syndrome
chondroectodermal dysplasia
muscular dystrophy
What disease is affected by chromosome 21 and symptoms include mental retardation, nose is short and flat, tongue is large and protrudes, eyes appear slanted, short stature, and congenital hearth defects?
trisomy 21 (down syndrome)
What type of diseases are caused by mulitple factors such as infection, blood incompatability, drug use, that occurs during pregnancy, at birth or shortly after?
congenital disease
Orally what disease appears with prominent and fissured tongue, periodontal diseas causing premature loss of teeth, hypodontia, crowded and mishapen teeth?
trisomy 21
What type of hemophilia is most common that occurs mostly in males and a low or almost nonexistent levels of factor VIII?
hemophilia A
Sex linked inheritance is usually passed on with the ______ chromosome.
X
turners syndrome
What are the sex linked disorders?
duchenne muscular dystrophy color blindness hemophilia fragile X syndrome
What age does patients with papillon-lefevre syndrome start to show symtoms?
1.5 to 2 years
In sex linked inheritance the male, can only manifest the disease if he has the gene on his X Chromosome, can he pass it to his son?
no only daughter
What type of disease has severe periodontal disease and hyperkeratosis of the palms of hands and soles of feet, neutrophil number is decreased, and it shows autosomal recessive inheritance patterns?
papillon-lefevre syndrome
What is the benign bone tumors?
osteomas
Over time episodes of neutropenia can lead to what?
periodontal disease loss of bone tooth mobility loss of teeth
gingival fibromatosis (hyperplasia)
When do we treat a patient with cyclic neutropenia and what do we do with recall?
only when neutrophils are normal need more frequent recall
What is gingival hyperplasia that is passed on in an autosomal dominant pattern?
gingival fibromatosis
hemophilia
maxillary exostosis
cyclic neutropenia
What disease affects 8% of male population and is transmitted on the X chromosome?
color blindness
What is the disease with one or more extra X chromosomes where the person appears to male but fails to mature about 50 % also have breasts. They are tall, mentally slow, and sterile with tauradont teeth present?
klinefelter syndrome
trisomy 13
What disease appears with a bilateral facial swelling, displacement of the eyes, increased distance between eyes?
cherubism
cherubism
What disease is the death of muscle fibers being replaced by fat and connective tissue with a missing protein dystrophin?
duchenne muscular dystrophy
Section 3
(50 cards)
type 1 amelogenesis imperfecta
What conditions generally have taurodontism?
klinefelter type 4 amelogenesis imperfecta inuits
White spongy nevus
What is a genetic disorder not a disease or malignancy that appears as a bilateral white, corrugated, soft, folding of oral mucosa. It is just a thickening of the later of keratin?
White Spongy Nevus
What type of dentin dysplasia has normal crowns but abnormal roots with pulp chambers and root canals absent with short roots that cause teeth to fall out with normal color?
type 1 radicular
What are the symptoms of meningitis?
high fever chills severe headache stiff neck
What are the 5 different types of epilepsy?
grand mal (tonic clonic) status epilepticus petit mal partial seizures generalized seizures
What disease starts out as cafe au lait skin pigmentation in the first decade of life then they develop neurofibromas throughout the body (internal and external) that can turn malignant and it can infiltrate the CNS, organs, and bones with multiple skeletal anomalies and mental disabilities?
von recklinhausen disease
hypotrichosis
What is the acute inflammation of the 1st two meningies of the brain and spinal cord?
meningitis
osteogenesis imperfecta
type 3 amelogenesis imperfecta
What is the term for a mini-stroke?
transient ischemic attack (TIA)
What are some of the oral manifestations of cyclic neutropenia?
severe ulcerative gingivitis ulcerations of tongue and mucosa pain bleeding
How long does the cycle of cyclic neutropenia usually occur every ______ days.
21 to 27
Overtime cyclic neutropenia can lead to what?
periodontal disease loss of bone tooth mobility loss of teeth
type 2 amelogenesis imperfecta
What 2 things can cause meningitis? Which is the most dangerous?
bacteria * virus
von recklinhausen disease
What is the other name for trigeminal neuralgia?
tic doulourex
dentin dysplasia type 1 radicular
What is the term for when a seizure has a pre-warning signal?
aura
What is caused by inflammation of the facial nerve that affects motor control of muscles and is thought to be caused by a virus, autoimmunity, or vascular ischemia?
bells palsy
taurodontia
What type of ectodermal dysplasia have less than normal amount of hair that is blond, short, fine, and eyebrows and eyelashes are missing?
hypotrichosis
What type of amelogenesis imperfecta is thin enamel, yellow to brown with tauradont teeth and radiographs show enamel same as dentin?
Type 4
What condition is due to improper collagen formation that causes bone fracture with mild cases having blue in the whites of the eye?
osteogenesis imperfecta
What type of ectodermal dysplasia have teeth that are small conical crowns?
hypodontia
Cleft palate, cleft lip, and congenital lip pits can be _____________.
autosomal dominant
What 2 things can cause strokes?
blocked blood vessel aneurysms
What condition has teeth with bulbous crowns with opalescent brown to brownish blue, primary teeth worse than secondary, dentin is soft which allows the enamel to chip away, can be worn down to alveolar process, roots are short and thin and can lose teeth prematurely?
dentinogenesis imperfecta
dentinogenesis imperfecta
peg laterals
What type of amelogenesis imperfecta is pitting and enamel doesn't develop to normal thickness?
type 1
What type of dentin dysplasia has normal roots but the crowns are translucent in primary similar to dentinogenesis imperfecta with permanent teeth being normal in color?
type 2 coronal
What are the 3 types of ectodermal dysplasia?
hypodontia hypotrichosis hypohidrosis
What are the 2 meningies that are affected by meningitis?
pia mater arachnoid mater
What are the systemic manifestations of cyclic neutropenia?
fever malaise sore throat occasional cutaneous infectsion
What type of ectodermal dysplasia have abnormally diminished secretion of sweat and they can die from hyperthermia?
hypohidrosis
What appears as macules intraorally on lips, buccal mucosa that can appear on hands, eyes, and mouth with intestinal polyps in small intestine that don't become malignant?
Peutz Jeghers Syndrome
What type of amelogenesis imperfecta is enamel is yellow to orange, very soft, and is lost easily?
type 2
Peutz Jeghers Syndrome
What condition is caused by the uncontrolled nerve discharge in the brain?
epilepsy
type 4 amelogenesis imperfecta
When do we treat a patient with cyclic neutropenia, how often is their recall?
when not having episode more frequent
What type of amelogenesis imperfecta is the snow capped?
Type 3
What is the severe intermittent pain that travels throughout which ever branch of the trigeminal nerve is affected?
trigeminal neuralgia
focal palmoplantar gingival hyperkeratosis
What type of tooth has enlarged pulp chambers with furcation near the apex, no constriction of tooth at CEJ?
taurodontism
dentin dysplasia type 2 coronal
Section 4
(50 cards)
What is the most common type of arthritis that is cause by injury or chronic irritation and is chronic condition where the cartilage degenerates, the bone degenerates, new bone is formed with bone spurs with joints appearing to be enlarged?
osteoarthritis
How is rheumatoid arthritis treated?
steroids NSAIDs
What are the symptoms of parkinson's disease?
tremor rigid muscles loss of normal reflexes mask like expressions faltering gait mental depression
The liver synthesizes clotting factors and ______.
prothrombin
What condition is damage to the brain causing inability to control movement that is due to anorexia during pregnancy or delivery, rubella, blood type incompatibility, Rh incompatibility, and is idiopathic?
cerebral palsy
What most often causes encephalitis?
viral infections
What is the condition that is inflammation of the bone due to a bacteria entering into the bone either by a fracture, through surgery, or through the blood stream, where the bone will become necrotic?
osteomyelitis
What is the most common type of muscular dystrophy?
duchenne
What type of spina bifida is a serious anomaly, where the nerve protrudes, may be mentally retarded or paralyzed?
meningomyelocele
What is the chronic inflammatory disease most common in female that is painful, stiff, achy joints that are swollen, red, and warm?
rheumatoid arthritis
What type of spina bifida is the meninges protruding through vertebra as a sac, no spinal cord involvement?
meningocele
myasthenia gravis
What is the condition that is caused by one or more vertebra failing to fuse leaving an opening in the vertebral canal?
spina bifida
What is the condition with inflammation in the synovial sac that contains synovial fluid that is treated with anti-inflammatories, heat, rest, and steroids?
bursitis
What is the degenerative disease affecting muscle control and coordination that is thought to be caused by a decrease in the neurotransmitter dopamine in the brain?
parkinson's disease
____ patients may be on high doses of aspirin and anti-inflammatory drugs causing excess bleeding?
arthritis
Where is bile stored?
gallbladder
What are the symptoms of multiple sclerosis?
muscle impairment tremors tingling weakness affects speech, vision, bladder control
What is the neurological illness that develops when varicella, influenza virus, or epstein barr virus is mixed with aspirin?
reyes syndrome
What is the missing protein in muscular dystrophy?
dystrophine
What is the autoimmune disease that is caused by a failure of transmission of the impulse from nerve to muscle due to low levels of acetylcholine because antibodies destroy acetylcholine in the synapse?
myasthenia gravis
What is usually a disease of the lung, but can spread to and destroy bone?
tuberculosis of the bone
What are the symptoms of reyes syndrome?
vomitting rash lethargy confusion seizures coma
What is the condition with uric acid deposition in the joints causing pain, heat, swelling, and redness?
gout
The liver stores glucose in the form of ______.
glycogen
What condition is most common in women ages 20 to 40 years and is caused by the destruction of the myelin sheath in the CNS due to chronic inflammation?
multiple sclerosis
What is the progressive degenerative genetic disease of the brain affecting the mind and body that generally is normal until about 30 to 50 years old?
huntington's disease (chorea)
What is the main chemical found in bile?
bilirubin
What are the 3 types of spina bifida?
meningocele meningomyelocele myelocele
What are the fat soluble vitamins
A D E K
Bile's function is to digest ______.
fat
jaundice
How is gout treated?
uric acid reduction medications
gout
What are the symptoms of huntington's disease?
loss of muscle control speech loss personality changes mental incompetence
rheumatoid arthritis
What is the benign tumor of the striated muscle?
rhabdomyoma
What is the condition that is most commonly seen in men age 50 to 60 years with progressive loss of neurological function with fatal results that is also called Lou Gehrig's disease?
amyotrophic lateral sclerosis
When is shingles most common?
over 85
What are the symptoms of encephalitis?
headache fever muscle & joint aches weakness
What is the benign tumor of the smooth muscle?
leiomyoma
What is the most common cause of the need for a joint replacement?
osteoarthritis
What is the malignant tumor of the striated muscle?
rhabdomyosarcoma
What is the malignant tumor of the smooth muscle?
leiomyosarcoma
What does the liver secrete?
bile
What are the systemic symptoms of rheumatoid arthritis?
fatigue weakness weight loss
Where else can uric acid be deposited besides joints and what does it cause?
kidneys stones
What type of spina bifida is the most severe form where the neural tube fails to close and nerve tissue is messed up and is usually fatal?
myelocele
What is the yellow/orange discoloration of skin tissues and the whites of the eyes that is caused by a buildup of bilirubin frequently in liver disease?
jaundice
What is the term for inflammation of the brain?
encephalitis
Section 5
(40 cards)