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53 Cards in this Set
- Front
- Back
Which single gene disorder causes abnormal bleeding due to an inability to clot
a) Sickle Cell Disease b) Hemophilia c) Von Willebrands d) b, c |
Von Willibrands - autosomal dominant disorder
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T/F Polycystic KD Disease typically manifests in young children
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F- autosomal dominant disorders do not manifest until later in life
polycystic kd disorder - 30-40 yrs causes hi BP, bloody urine, edema |
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List the types of single gene disorders
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autosomal dominant
autosomal recessive x/sex linked |
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Which is not a true statement about single gene disorders
a) there can be genetic codominance b) express in different parts of the body c) described as threshold phenomenon d) mutations at different loci can cause the same defect |
threshold phenomenon = multifactorial disorders- do not follow mendelian inheritance patters (ex type 2 diabetes)
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list the factors that influence the manifestation of an autosomal dominant disorder
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penetrance
expressivity |
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what is not true about autosomal dominant disorders
a) enzyme genes are defective b) manifest later in life c) single mutant gene will cause clinical manifestation d) all are true |
defective enzyme protein genes- autosomal recessive
regulatory protein gene defect in autosomal dominant |
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parent heterozyg for an autosomal dominant disorder has ___% chance of transmitting to offspring
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50%
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an unaffected offspring of a parent with an autosomal dominant disorder is likely a carrier
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F- unaffected therefore will not transmit
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T/F
autosomal recessive disorders usually manifest early in life |
true
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What is the %chance that 1 parent with sickle cell will have an affected child
a) 100% b) 75% c) 50% d) 25% |
25%- affected
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What is the %chance that 1 parent affected with phenylketonuria will have a carrier child
a) 100% b) 75% c) 50% d) 25% |
50% - carrier
autosomal recessive disorder |
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what is the % chance that 1 parent with sickle cell will have an unaffected non carrier child
a) 100% b) 50% c) 25% d) 0% |
25% - non carrier non affected
autosomal recessive disorder |
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T/F
X linked disorders typically affect women more than they affect men |
F
men more often affected because they only have 1 X chrom where most disorders are linked and therefore will always manifest |
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T/F
A male with a sex linked disorder will always transmit to the son |
F- disorders on X chrom - father give Y chrom to son
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what is the %chance that a mother carrier of a sex linked disorder will transmit the disorder to a son?
a) 100% b) 50% c) 25% d) 0% |
50%- transmit to son, also 50% chance carrier daughter
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this type of disorder can be influenced by environmental factors
a) single gene b) sex linked c) chromosomal d) multifactorial |
multifactorial- caused by multiple genes, environmental factors, and related to threshold phenomenon
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list the characteristic patterns of multifactorial disorders
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-single organ/tissue involved
-all pregnancies have the same risk of re-occurrence -2-5% risk in 1st degree relatives half the risk in 2nd degree relatives -risk increases after a second child is born with the same defect (3rd baby has higher risk) -increase risk of severity when defect occurs in sex least commonly affected |
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which is not true about multifactorial disorders
a) many organs/tissues are affected b) express during fetal life c) exhibit threshold phenomenon d) manifest later in life |
usually single organ/tissue is affected
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T/F defects due to an alteration in chromosome number usually result in an odd number of chromosomes
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T- due to non-disjunction
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Which is not a manifestation of Monosomy
a) short stature b) amenorrhea c) webbed neck d) all |
all-
also: HT/KD abnormalities, gonadal agenesis, no secondary sex characterists |
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Which is not true about Monosomy
a) manifestation of simian line b) 45 chromosomes c) can be managed with estrogen d) associated with X chromosome |
simian line= trisomy
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___ is the most common form of trisomy
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21
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T/F risk of polysomy increases in women >35yrs
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F- risk of trisomy increases
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list the manifestation of trisomy
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upward slanting of eyes
small/low/malformed ears open mouth w large protruding tongue short hand w simian line cardio and GI defects hi risk of leukemia and alzheimers |
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Polysomy has ____ chromosomes
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47 - XXY= kleinfelters
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what is the primary cause of Kleinfelters?
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XXY- due to maternal non-disjunction
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which is not true about polysomy
a) symptoms always manifest at birth b) can cause infertility c) extra sex chromosome d) all are true |
manifestations may not be detected at birth
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list the causes of abnormal chromosome
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radiation
chemicals change in cellular environment virus |
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list the classifications of alterations in chromosome structure
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deletion
iso-chromosome formation ring formation translocation |
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The most vulnerable period of fetal development
a) zygotic stage b) Embryonic stage c) Fetal Stage d) a,b |
embryonic stage days 15-60 when organ devlopment occurs
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____ can produce abnormalities during embryonic and fetal development
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teratogens
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T/F
irradiation can cause inheritable genetic mutations |
T- teratogenic and mutagenic
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list the effects of radiation exposure
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microcephaly
skeletal malformation mental retardation |
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T/F
a mothers use of some acne medications cause cause damage to the embryo |
T- retinol tx deriviative of Vit A
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T/F
all drugs can cause harm to a developing fetus |
F- must cross the placenta
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List manifestations of fetal alcohol syndrom
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short palpebral fissure
thin upper lip elongated/flattened midface/philtrum low birth weight behavioral dysfunction intellectual impairment |
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all of the following are manifestations of fetal alcohol syndrome except
a) neural tube defect b) undescended testicles c) hydrocephaly d) all are manifestations e) none are manifestation |
neural tube defect- Folic Acid xu
undescended testes- cocaine hydrocephaly- infection manifestations include: behavioral/intellectual impairment lo birth weight flat midface/philtrum short palpebral fissure thin upper lip |
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List the mechanisms of cocaine use during pregnancy
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fetal vasoconstriction decreases utero-placental blood flow
stimulate uterine contractions hypertension -> abruptio placentae |
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List the manifestations of cocaine babies
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low birth weight
limb reduction undescended testes impaired auditory system |
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can manifest with a low birth weight
a) fetal alcohol syndrome b) cocaine baby c) infection d) a, b e) b, c |
alcohol
cocaine |
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What is the manifestations of Folic Acid deficiency
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neural tube defect
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what mechanism affects the fetus due to an infection
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micro-organism crosses placenta
usually virus, Gonococcus, Treponema pallidum |
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list the methods used to diagnose disorders in utero
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Maternal Serum Markers -AFP
ultrasound amniocentesis chorionic villus sampling percutaneous umbilical blood sampling fetal biopsy |
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Hi AFP diagnose _______
Lo AFP diagnoses ______ |
hi- neural tube defect, missed abortion, multiple preg
Lo- Downs Synd |
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T/F
a woman with a folic acid deficiency will likely have a lo AFP levels |
F- hi levels
hi AFP also indicates neural tube defect, multiple preg, missed abortion |
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what test would be used to diagnose trisomy 21
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maternal serum marker AFP- lo levels
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Which is used to measure the amount of AFP
a) maternal blood b) umbilical blood c) amniotic fluid d) a, b e) a, c |
maternal blood
amniotic fluid |
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this screening is typically done in the 16th-18th week of preg
a) AFP- serum markers b) Ultrasound c) Chorionic Villus sampling d) a, b e) b, c |
AFP
Ultrasound (villus sample - 8-12th week) |
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this time of gestation is when levels of AFP peak
a) 13 week b) 15 week c) 26 week d) 32 week |
32
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List possible clinical diagnosis from Ultrasound
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# fetuses
fetal size, position, movement, skeletal structure amount of amniotic fluid location of placenta HT beat hydrocephaly spina bifida |
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this test is used to detect skin and muscle disorders
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fetal biopsy
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umbilical blood sampling can diagnose ______
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blood disorders- hemoglobinopathies, coagulation disorders
immunology, metabolic, and infectious disorders |
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which test can provide chromosomal and DNA analysis
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chorionic villus sampling
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