Pathophys 1 Genetic And Chromosomal Disorders

Front 1

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

Back 1

Von Willibrands - autosomal dominant disorder

Front 2

T/F Polycystic KD Disease typically manifests in young children

Back 2

F- autosomal dominant disorders do not manifest until later in life

polycystic kd disorder - 30-40 yrs causes hi BP, bloody urine, edema

Front 3

List the types of single gene disorders

Back 3

autosomal dominant
autosomal recessive
x/sex linked

Front 4

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

Back 4

threshold phenomenon = multifactorial disorders- do not follow mendelian inheritance patters (ex type 2 diabetes)

Front 5

list the factors that influence the manifestation of an autosomal dominant disorder

Back 5

penetrance
expressivity

Front 6

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

Back 6

defective enzyme protein genes- autosomal recessive

regulatory protein gene defect in autosomal dominant

Front 7

parent heterozyg for an autosomal dominant disorder has ___% chance of transmitting to offspring

Back 7

50%

Front 8

an unaffected offspring of a parent with an autosomal dominant disorder is likely a carrier

Back 8

F- unaffected therefore will not transmit

Front 9

T/F

autosomal recessive disorders usually manifest early in life

Back 9

true

Front 10

What is the %chance that 1 parent with sickle cell will have an affected child

a) 100%
b) 75%
c) 50%
d) 25%

Back 10

25%- affected

Front 11

What is the %chance that 1 parent affected with phenylketonuria will have a carrier child

a) 100%
b) 75%
c) 50%
d) 25%

Back 11

50% - carrier
autosomal recessive disorder

Front 12

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%

Back 12

25% - non carrier non affected

autosomal recessive disorder

Front 13

T/F

X linked disorders typically affect women more than they affect men

Back 13

F
men more often affected because they only have 1 X chrom where most disorders are linked and therefore will always manifest

Front 14

T/F

A male with a sex linked disorder will always transmit to the son

Back 14

F- disorders on X chrom - father give Y chrom to son

Front 15

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%

Back 15

50%- transmit to son, also 50% chance carrier daughter

Front 16

this type of disorder can be influenced by environmental factors

a) single gene
b) sex linked
c) chromosomal
d) multifactorial

Back 16

multifactorial- caused by multiple genes, environmental factors, and related to threshold phenomenon

Front 17

list the characteristic patterns of multifactorial disorders

Back 17

-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

Front 18

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

Back 18

usually single organ/tissue is affected

Front 19

T/F defects due to an alteration in chromosome number usually result in an odd number of chromosomes

Back 19

T- due to non-disjunction

Front 20

Which is not a manifestation of Monosomy

a) short stature
b) amenorrhea
c) webbed neck
d) all

Back 20

all-

also: HT/KD abnormalities, gonadal agenesis, no secondary sex characterists

Front 21

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

Back 21

simian line= trisomy

Front 22

___ is the most common form of trisomy

Back 22

21

Front 23

T/F risk of polysomy increases in women >35yrs

Back 23

F- risk of trisomy increases

Front 24

list the manifestation of trisomy

Back 24

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

Front 25

Polysomy has ____ chromosomes

Back 25

47 - XXY= kleinfelters

Front 26

what is the primary cause of Kleinfelters?

Back 26

XXY- due to maternal non-disjunction

Front 27

which is not true about polysomy

a) symptoms always manifest at birth
b) can cause infertility
c) extra sex chromosome
d) all are true

Back 27

manifestations may not be detected at birth

Front 28

list the causes of abnormal chromosome

Back 28

radiation
chemicals
change in cellular environment
virus

Front 29

list the classifications of alterations in chromosome structure

Back 29

deletion
iso-chromosome formation
ring formation
translocation

Front 30

The most vulnerable period of fetal development

a) zygotic stage
b) Embryonic stage
c) Fetal Stage
d) a,b

Back 30

embryonic stage days 15-60 when organ devlopment occurs

Front 31

____ can produce abnormalities during embryonic and fetal development

Back 31

teratogens

Front 32

T/F

irradiation can cause inheritable genetic mutations

Back 32

T- teratogenic and mutagenic

Front 33

list the effects of radiation exposure

Back 33

microcephaly
skeletal malformation
mental retardation

Front 34

T/F

a mothers use of some acne medications cause cause damage to the embryo

Back 34

T- retinol tx deriviative of Vit A

Front 35

T/F

all drugs can cause harm to a developing fetus

Back 35

F- must cross the placenta

Front 36

List manifestations of fetal alcohol syndrom

Back 36

short palpebral fissure
thin upper lip
elongated/flattened midface/philtrum
low birth weight
behavioral dysfunction
intellectual impairment

Front 37

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

Back 37

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

Front 38

List the mechanisms of cocaine use during pregnancy

Back 38

fetal vasoconstriction decreases utero-placental blood flow
stimulate uterine contractions
hypertension -> abruptio placentae

Front 39

List the manifestations of cocaine babies

Back 39

low birth weight
limb reduction
undescended testes
impaired auditory system

Front 40

can manifest with a low birth weight

a) fetal alcohol syndrome
b) cocaine baby
c) infection
d) a, b
e) b, c

Back 40

alcohol
cocaine

Front 41

What is the manifestations of Folic Acid deficiency

Back 41

neural tube defect

Front 42

what mechanism affects the fetus due to an infection

Back 42

micro-organism crosses placenta

usually virus, Gonococcus, Treponema pallidum

Front 43

list the methods used to diagnose disorders in utero

Back 43

Maternal Serum Markers -AFP
ultrasound
amniocentesis
chorionic villus sampling
percutaneous umbilical blood sampling
fetal biopsy

Front 44

Hi AFP diagnose _______

Lo AFP diagnoses ______

Back 44

hi- neural tube defect, missed abortion, multiple preg

Lo- Downs Synd

Front 45

T/F

a woman with a folic acid deficiency will likely have a lo AFP levels

Back 45

F- hi levels

hi AFP also indicates
neural tube defect, multiple preg, missed abortion

Front 46

what test would be used to diagnose trisomy 21

Back 46

maternal serum marker AFP- lo levels

Front 47

Which is used to measure the amount of AFP

a) maternal blood
b) umbilical blood
c) amniotic fluid
d) a, b
e) a, c

Back 47

maternal blood
amniotic fluid

Front 48

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

Back 48

AFP
Ultrasound

(villus sample - 8-12th week)

Front 49

this time of gestation is when levels of AFP peak

a) 13 week
b) 15 week
c) 26 week
d) 32 week

Back 49

32

Front 50

List possible clinical diagnosis from Ultrasound

Back 50

# fetuses
fetal size, position, movement, skeletal structure
amount of amniotic fluid
location of placenta
HT beat
hydrocephaly
spina bifida

Front 51

this test is used to detect skin and muscle disorders

Back 51

fetal biopsy

Front 52

umbilical blood sampling can diagnose ______

Back 52

blood disorders- hemoglobinopathies, coagulation disorders
immunology, metabolic, and infectious disorders

Front 53

which test can provide chromosomal and DNA analysis

Back 53

chorionic villus sampling