Genetics/Hematology

Question 1

Risk of having child with birth defect

Answer 1

3-4 % for everyone

Question 2

Genetics defined

Answer 2

the study of single genes and their effects

trisomy 21, huningtons

Question 3

Genomics defined

Answer 3

all the genetic information in our bodies

complete mapping

Question 4

Chromosomes defined

Answer 4

units of genetic material - 2 pairs of 23

Question 5

Karyotype defined

Answer 5

the ordered arrangement of chromosomes

Question 6

Teratogens defined

Answer 6

environmental cause often chemical

Question 7

Somatic cells

Answer 7

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

Question 8

Mitosis

Answer 8

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

Question 9

Sex chromosomes

Answer 9

X and Y
XX female
XY male

Question 10

Alleles

Answer 10

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

Question 11

Penetration

Answer 11

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

Question 12

Autosomal

Answer 12

non sex linked

Question 13

Genotype

Answer 13

the actual genetic make up of a person

Question 14

Phenotype

Answer 14

the observational makeup, what we see

Question 15

Pedigree

Answer 15

the family history in graphic for

Question 16

square on pedigree

Answer 16

male

Question 17

circle on pedigree

Answer 17

female

Question 18

filled in square or circle

Answer 18

affected

Question 19

line between circle and square

Answer 19

mating

Question 20

train tracks on pedigree

Answer 20

adopted

Question 21

X- linked pedigree

Answer 21

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

Question 22

Trisomey 21

Answer 22

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

Question 23

Downs features

Answer 23

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

Question 24

Common medical issues with downs

Answer 24

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

Question 25

Marfan Syndome

Answer 25

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

Question 26

Neurofibromatosis

Answer 26

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

Question 27

BRCA 1 and 2

Answer 27

major components of breast cancer

Question 28

breast cancers

Answer 28

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

Question 29

Reasons for anemia

Answer 29

``` medication chronic disorders kidney failure blood loss ulcers colon diet pregnancy wt loss surgery ```

Question 30

Test for anemia

Answer 30

``` CBC B12 ferratin FE reticular count MCV 8-100 normal ```

Question 31

Fe deficiency anemia

Answer 31

most common type | from menstrual cycles, PUD, Crohn's, coliac, ASA, colon Ca

Question 32

Symptoms of Fe def anemia

Answer 32

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

Question 33

Fe rich foods

Answer 33

``` eggs chicken turkey lentils beans peas red meat fish prunes raisens ```

Question 34

oral Fe

Answer 34

325 TID | dark stools and constipation

Question 35

Perniscious anemia

Answer 35

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

Question 36

Perniscious anemia symptoms

Answer 36

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

Question 37

Tx Perniscious anemia

Answer 37

Fe injections 1000 IM daily x 1 week, weekly x 1 month then monthly Oral 1000-2000mcg daily

Question 38

Sickle cell

Answer 38

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

Question 39

Neutropenia

Answer 39

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