Med Gen From Mac

Front 1

Percentage of miscarriages due to chrom. abnormalities?

Back 1

50-60%

Front 2

What’s the most common chrom. abnormality seen in 1st trimester miscarriages?

Back 2

45,X (Turner’s Syndrome)

Front 3

Most common trisomy that causes miscarriage?

Back 3

Trisomy 16

Front 4

Percentage of pregnancies that --> miscarriage?

Back 4

15%

Front 5

How do trisomy’s happen? Which parent contributes more often?

Back 5

Maternal non-dysjunction

Front 6

At age 40, what’s the risk of child being born with down syndrome?

Back 6

1%

Front 7

If Down syndrome translocation due to de novo (parents don’t have it), what’s the risk that the next child will have Down Syndrome?

Back 7

0% (or same as par

Front 8

If mother or father has a translocation, what is the risk child will have it?

Back 8

Mother=carrier: 10-15% chance
Father=carrier: 3-5%

Front 9

How do you prevent neural tube defects?

Back 9

Take folic acid in first month of pregnancy; don’t take antiepileptic drugs

Front 10

What makes up the quadruple screen for abnormalities? when is it done?

Back 10

mom’s blood at 15-21 weeks
alpha-feta protein (spinal defects)
estriol
beta human gonadotropin hormone
inhibinase

Front 11

Quadruple screen test results that indicate Down Syndrome?

Back 11

low a-fp & estriol
high hcg & high inhibin A

Front 12

What microbe infections cause birth defects? major infectious teratogens?

Back 12

“TORCH”
Taxoplasmosis - brain calcification
Other: Syphyllis, chicken pox
Rubella
Cytomegla Virus
Herpes

Front 13

Which agents cause brain calcifications?

Back 13

Toxoplasmosis & CMV

Front 14

What’s the most critical timepoint for teratogenic defects?

Back 14

2-8 weeks post conception
less likely later in pregnancy

Front 15

Factors that influence effects of teratogenic exposure?

Back 15

degree of tetratagenicity
duration of infection
timing of infection
quantity of dose

Front 16

Describe Fetal Alcohol Syndrome

Back 16

Babies are irritable (w/drawl), growth defic., mental retardation, short eye seizures, upturned nose

Front 17

What’s Category C?

Back 17

Not enough information known

Front 18

Which medications can you prescribe in pregnancy?

Back 18

Category A & B: either no risk in humans, or possible risk in animals but not humans

Front 19

What’s category D?

Back 19

Some risks, benefits outweigh risks
ex. antiepileptics

Front 20

What’s category X (medications)? example?

Back 20

NEVER give to pregnant women
ex. accutane

Front 21

Thaliminide associated with?

Back 21

Limb reduction

Front 22

What does accutane cause?

Back 22

Missing ears, small mouth, cleft palate

Front 23

What does lithium cause?

Back 23

Ebstein’s anomoly - poor development of R. ventrical

Front 24

What level of radiation causes risks during pregnancy?

Back 24

<5 rads - no risk
5-10 rads - some risk
>10 rads - risk

Front 25

How do inborn metabolic conditions present?

Back 25

Neuro (CNS impaired): Hypo/Hyper-tonia, seizures
Growth - abnormal
Feeding intolerance: vomiting, diarrhea
Met. derangement: acidosis, Hyperammonemia

Front 26

Characteristics of inborn metabolic errors
at birth
heritability
clinical presentation

Back 26

at birth: normal, not malformed
heritability: autosomal recessive, single gene
clinical variability

Front 27

How do you diagnose inborn metabolic errors?

Back 27

measure enzymes, metabolites, or DNA analysis

Front 28

Tuberous Sclerosis
inheritance

Back 28

inheritance : AD, incomplete penetrance, variable presentation
mutation of one of 2 genes that code for tumor suppressing proteins

Front 29

Tuberous Sclerosis
presentation

Back 29

Presentation :
skin: facial legions, hypopigmented spots
cortical & retinal hamartomas (benign growths)
Neuro: seizures & retardation, learning delays, autism
Kidney: renal cysts & angiomyolipomas

Front 30

At what stage of the cell cycle do most errors in female non disjunction (--> trisomies) occur?

Back 30

Meiosis I

Front 31

What happens if you have a balanced 14,21 translocation?

Back 31

Alternate segregation, Phenotypically normal, 45 chromosomes

Front 32

What are the results of unbalanced translocations?

Back 32

miscarriage, stillbirth, Down’s Syndrome, or Patau’s Syndromes

Front 33

What are the general signs of a Torch infection?

Back 33

jaundice, growth retardation, enlarged liver & spleen, low platelets

Front 34

Toxoplasmosis
mode of transmission
maternal manifestations
neonatal manifestations

Back 34

mode of transmission: undercooked meet, cat feces
maternal manifestations: asymptomatic
neonatal manifestations: brain calcifications, inflamed retina, brain swelling/fluid

Front 35

Syphilis
mode of transmission
maternal manifestations
neonatal manifestations

Back 35

mode of transmission: Sex
maternal manifestations: sores, rash, neuro.
neonatal manifestations: facial annorm (notched teeth, saddle nose, short jaw), saber shins, deformed nails, fever, jaundice

Front 36

Rubella
mode of transmission
maternal manifestations
neonatal manifestations

Back 36

mode of transmission: respiratory
maternal manifestations: rash, arthritis
neonatal manifestations: PDA, cataracts & deafness, blueberry rash

Front 37

CMV
mode of transmission
maternal manifestations
neonatal manifestations

Back 37

mode of transmission: sex, organ transplant
maternal manifestations: asymptomatic or mono
neonatal manifestations: hearing loss, brain calcifications, seizures, rash

Front 38

Herpes
mode of transmission
maternal manifestations
neonatal manifestations

Back 38

mode of transmission: Skin, mucous
maternal manifestations: asymptomatic or lesions (C-section)
neonatal manifestations: lesions, encephalitis

Front 39

Achondroplasia:
cause
presentation

Back 39

defect of fibroblast growth factor
advanced paternal age
dwarfism: short limbs, but normal head & trunk
limited elbow extension
midface hypoplasia

Front 40

Skeletal Dysplasia presentation

Back 40

Skull: disprop. large
Eyes: Myopia
Ears: swelling of pinae
Hands & Feet: hitchhiker thumb, clubfoot
Bones - long, bowing, long fractures
Thorax: long or narrow
Heart: ductus arteriosus, atrial septal defect/single atrium

Front 41

Osteogenesis Imperfecta
cause
presentation

Back 41

Genetic bone disorder (mostly AD)
- looks like child abuse
abnormal Type I collagen, causing:
Multiple Fractures - w/minimal trauma
Blue Sclerae
Hearing Loss
Dental Imperfections (lacks dentin)

Front 42

Which Osteogenesis Imperfectas are fatal? severity range?

Back 42

OI 2 > 3 > 4 > 1
OI 2: fatal & autosomal recessive

Front 43

Describe the human mitochondrial genome?

Back 43

~10 copies/mitochondria
MATERNALly inherited
gene dense

Front 44

What is Dystrophin?

Back 44

Structural protein of cytoskeleton underlying cell membrane
- attaches cytoskelleton & plasma membrane
- alternate promoter sites --> generate tissue-specific dystrophin proteins

Front 45

Describe histones genes

Back 45

no introns
highly conserved
multigene clusters
genes are duplicated

Front 46

Southern Blot

Back 46

DNA
Allows detection of gene of interest
- radiolabeled DNA probe rec. & connects to complementary strand

Front 47

Northern Blot

Back 47

RNA
- radiolabeled DNA probe binds RNA

Front 48

Western Blot

Back 48

Sample protein seperated by gel electrophoresis & filtered
- labeled antibody binds relevant PROTEIN

Front 49

What percentage of breast cancer is hereditary?

Back 49

15-20%

Front 50

What percentage of hereditary breast cancer is due to:
BRCA1:
BRCA2:

Back 50

BRCA1: 20-40%
BRCA2: 10-30%

Front 51

Lifelong Breast CA risk from BRCA1?

Back 51

Breast CA - 85%
Ovarian CA --> 45 %

Front 52

Lifelong Breast CA risk from BRCA2? ovarian? other cancers?

Back 52

Breast CA - 50-85%
Ovarian CA - 25%
male Breast CA - 6% risk
associated w/ prostate (20%), stomache, melanoma

Front 53

Features that indicate increased risk of breast CA from BRCA mutations?

Back 53

multiple cases of early onset breast CA, ovarian CA
breast & ovarian CA in the same woman
bilateral breast CA
male breast CA
Ashkenazi Jewish

Front 54

Prophylactic Oophorectomy

Back 54

Eliminates risk of 1ary ovarian CA, reduces risk of morbidity
induces surgical menopause
peritoneal carcinomatosis can still occur

Front 55

Genetics of Colon Cancer
- risk

Back 55

familial adenomatous polyposis (Gardner syndrome) - >95%
HNPCC (hered. non- polyposis colorectal CA) - 70-80%
general risk: 5%

Front 56

Characteristics of Familial adenomatous polyposis

Back 56

hundreds of colonic polyps in teens/20’s (100+ for diagnosis)
prog. to colon CA in nearly all cases (untreated polyposis always --> CA)
death by colon CA in most cases by age 50 (unless colon removed

Front 57

Genetics of Familial adenomatous polyposis
inheritance
cause
penetrance
type of mutation

Back 57

AD
mutation in APC tumor suppressor on chrom 5q
>90 & penetrance
most mutations = protein truncated

Front 58

Genetics of hereditary non- polyposis colorectal CA

Back 58

AD
80% lifetime risk
6% of colon cancer

Front 59

Clinical features of hereditary non- polyposis colorectal CA

Back 59

early (but) variable) age of diagnosis - ~45
proximal colon = tumor site
inc. endometrial risk (43%), ovarian