chapter 6 genetic and developmental disorders and module 1 study guide

Question 1

congenital

Answer 1

present at birth

Question 2

congenital malformation

Answer 2

structural defects attributable to errors in fetal development

Question 3

phenotype

Answer 3

physical and biological traits or attributes of individual that are outwardly apparents

Question 4

chromatid

Answer 4

2 identical linear chromosome units, make up the x-shape chromosome
-separate during meiosis

Question 5

chromosomes

Answer 5

23 pair
22 autosomes
1 sex chromosome

Question 6

alleles

Answer 6

several forms of one gene

2 for each gene, one from each parent

Question 7

recessive trait

Answer 7

apparent only if both alleles for that trait are recessive.

Question 8

DNa mutation

Answer 8

permanent change in DNA structure

Question 9

genetic mutations 2 types

Answer 9

change reading frame

do not change reading frame

Question 10

anueploidy

Answer 10

abnormal number of chromosomes

Question 11

monosomy

Answer 11

missing a chromosome

Question 12

polysomy

Answer 12

too many chromosomes

Question 13

translocation on chromosome

Answer 13

exchange of pieces of DNA between nonhomologous chromosomes.

Question 14

inversion on chromosome

Answer 14

removal and end-for-end reinsertion of sections of chromosome

Question 15

deletion

Answer 15

loss of chromosomal material

Question 16

duplication

Answer 16

extra copies of portions of DNA

Question 17

mendelian single gene disorders

Answer 17

mutations in single gene
classified according to location of defective gene and the move of transmission .
(autosomal or sex)
(dominant or recessive)

Question 18

autosomal dominant mutation pattern

Answer 18

gene sufficient to cause disorder despite normal allele for same gene.
predictable pattern:
males and females equally effected
usually have an affected parent
unaffected do not transmit disease
affected individual + unaffected = 1/2 change of inheritance
2 people each with one copy of defective gene = 3/4 change inheritance

Question 19

autosomal recessive mutation pattern

Answer 19

occur only when both alleles are mutated
predictable pattern:
males and females equally effected
most cases disease not apparent in parents
unaffected may transmit disease to offspring
2 carriers = 1/4 change of producing affected offspring and 2/4 change producing carrier.

Question 20

sex-linked (x-linked) mutation pattern

Answer 20

mutation of sex chromosome, usually X
nearly all are recessive
predictable pattern:
males usually affected
affected fathers transmit defective gene to only daughters
unaffected males do not carry defective gene
carrier female has 1/2 chance of producing affected son and 1/2 chance of producing carrier daughter.

Question 21

Nonmendelian single gene disorders

Answer 21

caused by expanded triplet repeat mutations
attributable to mitochondrial DNA mutations
disorders associated with genomic imprinting

Question 22

gene therapy

Answer 22

treatment of genetic disease by replacing defective gene with normal, healthy gene.

Question 23

electrolytes with high concentration intracellular

Answer 23

potassium
magnesium
phosphate
proteins

Question 24

electrolytes with high extracellular concentration

Answer 24

sodium
chloride
bicarbonate
calcium

Question 25

with age total body water percentage

Answer 25

decreases

Question 26

water moves across cell membranes according to

Answer 26

osmotic gradients

Question 27

serum level and total body level different

Answer 27

low serum level of electrolyte could be associated with normal total body level of binding of electrolytes to proteins or organic ions occur.

Question 28

mitochondrial gene mutations

Answer 28

only transmitted by mother | usually affect tissues with high ATP use

Question 29

relationship between serum calcium and serum phosphate is

Answer 29

opposing when phosphate is low, calcium is high when phosphate is high, calcium is low

Question 30

hyperkalemia causes resting membrane potential to

Answer 30

be hypopolarized decreases the duration and rate of cardiac cell action potentials.

Question 31

chronic renal failure and hyperkalemia

Answer 31

aldosterone excretes K+ by colon | shift of K+ into cells helps to normalize resting potential

Question 32

reduced thirst response when body fluid osmolality decreases affects

Answer 32

geriatric

Question 33

normal ranges of serum electrolytes are wider in

Answer 33

neonates

Question 34

at high risk for increased insensible water excretion is

Answer 34

neonates

Question 35

limited ability to concentrate urine or dilute it is

Answer 35

neonates

Question 36

decreased skin turgor is not a reliable sign of dehydration with

Answer 36

geriatrics

Question 37

assessment of jugular venous distention should not be used with

Answer 37

neonates

Question 38

age group at increased risk for hypocalcemia

Answer 38

neonates

Question 39

nondisjunction

Answer 39

failure of the normal process of separation and migration of chromosomes during cell division

Question 40

3 major processes involved in preservation and transmission of genetic information

Answer 40

replication transcription translation

Question 41

blood vessel endothelium is what type of tissue

Answer 41

epithelial

Question 42

most common type of genetic isorder

Answer 42

multifactoral/polygenic

Question 43

Down syndrome is what type of disorder

Answer 43

autosomal chromosome

Question 44

fragile x syndrome is characterized by

Answer 44

repeating sequences of three nucleotides | anticipation nonmendelian single gene disorder

Question 45

TORCH comples

Answer 45

are able to cross the placenta and infect fetus

Question 46

teratogenic potential of what infection begins before conception

Answer 46

rubella

Question 47

huntington

Answer 47

autosomal dominant

Question 48

neurofibromatosis

Answer 48

autosomal dominant

Question 49

polycystic kidney disease

Answer 49

autosomal dominant

Question 50

familial polyposis coli

Answer 50

autosomal dominant

Question 51

von willebrand

Answer 51

autosomal dominant

Question 52

marfan

Answer 52

autosomal dominant

Question 53

osteogenesis imperfecta

Answer 53

autosomal dominant

Question 54

familial hypercholesterolemia

Answer 54

autosomal dominant

Question 55

cystic fibrosis

Answer 55

autosomal recessive

Question 56

oculocutaneous albinism

Answer 56

autosomal recessive

Question 57

phenylketonuria

Answer 57

autosomal recessive

Question 58

alpha 1 antitrypsin deficiency

Answer 58

autosomal recessive

Question 59

sickle cell anemia

Answer 59

autosomal recessive

Question 60

thalassemia

Answer 60

autosomal recessive

Question 61

dechenne muscular dystrophy

Answer 61

x-linked recessive

Question 62

hemophilias a and b

Answer 62

x-linked recessive

Question 63

glucose 6-phosphate dehydrogenase deficience

Answer 63

x-linked recessive

Question 64

diabetes insipidus

Answer 64

autosomal dominant

Question 65

fragile X syndrome

Answer 65

sex-linked recessive

Question 66

trisomy 21

Answer 66

autosomal chromosome

Question 67

trisomy 18

Answer 67

autosomal chromosome

Question 68

trisomy 13

Answer 68

autosomal chromosome

Question 69

cri du chat syndrome

Answer 69

autosomal chromosome

Question 70

klinefelter syndrome

Answer 70

sex chromosome | male with multiple x's

Question 71

turner syndrome

Answer 71

sex chromosome | one x and no y