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Test 3 PC1 > Genetics/Hematology > Flashcards

Genetics/Hematology Flashcards

1
Q

Risk of having child with birth defect

A

3-4 % for everyone

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2
Q

Genetics defined

A

the study of single genes and their effects

trisomy 21, huningtons

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3
Q

Genomics defined

A

all the genetic information in our bodies

complete mapping

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4
Q

Chromosomes defined

A

units of genetic material - 2 pairs of 23

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5
Q

Karyotype defined

A

the ordered arrangement of chromosomes

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6
Q

Teratogens defined

A

environmental cause often chemical

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7
Q

Somatic cells

A

the sperm and ova have half the number of chromosomes as a results of meiosis

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8
Q

Mitosis

A

same number of chromosomes in each daughter cell (2 sets/pair)

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9
Q

Sex chromosomes

A

X and Y
XX female
XY male

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10
Q

Alleles

A

sequences of codes for DNA that occupies a given locus on a chromosome
dominant, recessive, codominant, incomplete
blood type A,B,O
eye color blue, brown, green

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11
Q

Penetration

A

degree to which the disease characteristics are present in a person. no disease is the same in a person

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12
Q

Autosomal

A

non sex linked

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13
Q

Genotype

A

the actual genetic make up of a person

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14
Q

Phenotype

A

the observational makeup, what we see

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15
Q

Pedigree

A

the family history in graphic for

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16
Q

square on pedigree

A

male

17
Q

circle on pedigree

A

female

18
Q

filled in square or circle

A

affected

19
Q

line between circle and square

A

mating

20
Q

train tracks on pedigree

A

adopted

21
Q

X- linked pedigree

A

only males affected, they can’t be carriers (either have it or they don’t)
women can only be carriers

22
Q

Trisomey 21

A

Downs
47 XY + 21
this means that there is a extra 21 chromosome

23
Q

Downs features

A 
epicanthal folds
flat mid face
small chin
low set ears
simeon crease
24
Q

Common medical issues with downs

A 
sleep apnea
cardiac
slow metabolism
hypothyroid
55 is the life span ( 1/3 develop Alzheimer)
25
Q

Marfan Syndome

A 
connective tissue disorder
can have:
dissecting aorta
dislocated lenses- need glasses
arachnodactly- long fingers
scoliosis
pectus excavatum
hyperextensibility
wide wing span
26
Q

Neurofibromatosis

A

dominant disorder
tumors where nerve located
Cafe au alit spots and freckling in groin and axilla are unique

27
Q

BRCA 1 and 2

A

major components of breast cancer

28
Q

breast cancers

A

autosomal dominant but just having the gene doesn’t guarantee cancer
80% do, 20% don’t

29
Q

Reasons for anemia

A 
medication
chronic disorders
kidney failure
blood loss
ulcers
colon
diet
pregnancy
wt loss surgery
30
Q

Test for anemia

A 
CBC
B12
ferratin
FE
reticular count
MCV 8-100 normal
31
Q

Fe deficiency anemia

A

most common type

from menstrual cycles, PUD, Crohn’s, coliac, ASA, colon Ca

32
Q

Symptoms of Fe def anemia

A 
brittle nails
kelosis (lip cracking)
tachy
light headed
fatigue
HA
SOB
constipation
heart murmor
pale
33
Q

Fe rich foods

A 
eggs
chicken
turkey
lentils
beans
peas
red meat
fish
prunes
raisens
34
Q

oral Fe

A

325 TID

dark stools and constipation

35
Q

Perniscious anemia

A

decreased RBCs b/c body can’t absorb B12
60 years is when onset occurs
associated with atropic gastritis, H2 blockers, metformin

36
Q

Perniscious anemia symptoms

A

sudden fatigue, diarrhea, pale, decreased appetite, SOB, swollen red tongue, bleeding gums

37
Q

Tx Perniscious anemia

A

Fe injections 1000 IM daily x 1 week, weekly x 1 month then monthly

Oral 1000-2000mcg daily

38
Q

Sickle cell

A 
Hgb S
Decreased O2 to cells due to shape
recessive (need two copies)
screened in newborns
no treatment, pain control with crisis
39
Q

Neutropenia

A

WBC <1500
causes could include environment, antidepressants, anticonvulsants, antihistamines, diuretics
consider sepsis, HIV, bone marrow disorders
ulcers in mouth

Test 3 PC1 (3 decks)

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