Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathophysiology > chapter 6 genetic and developmental disorders and module 1 study guide > Flashcards

chapter 6 genetic and developmental disorders and module 1 study guide Flashcards

1
Q

congenital

A

present at birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

congenital malformation

A

structural defects attributable to errors in fetal development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

phenotype

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

chromatid

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

chromosomes

A

23 pair
22 autosomes
1 sex chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

alleles

A

several forms of one gene

2 for each gene, one from each parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

recessive trait

A

apparent only if both alleles for that trait are recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

DNa mutation

A

permanent change in DNA structure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

genetic mutations 2 types

A

change reading frame

do not change reading frame

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

anueploidy

A

abnormal number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

monosomy

A

missing a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

polysomy

A

too many chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

translocation on chromosome

A

exchange of pieces of DNA between nonhomologous chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

inversion on chromosome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

deletion

A

loss of chromosomal material

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

duplication

A

extra copies of portions of DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

mendelian single gene disorders

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

autosomal dominant mutation pattern

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

autosomal recessive mutation pattern

A

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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

sex-linked (x-linked) mutation pattern

A

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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Nonmendelian single gene disorders

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

gene therapy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

electrolytes with high concentration intracellular

A

potassium
magnesium
phosphate
proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

electrolytes with high extracellular concentration

A

sodium
chloride
bicarbonate
calcium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

with age total body water percentage

A

decreases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

water moves across cell membranes according to

A

osmotic gradients

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

serum level and total body level different

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

mitochondrial gene mutations

A

only transmitted by mother

usually affect tissues with high ATP use

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

relationship between serum calcium and serum phosphate is

A

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

30
Q

hyperkalemia causes resting membrane potential to

A

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

31
Q

chronic renal failure and hyperkalemia

A

aldosterone excretes K+ by colon

shift of K+ into cells helps to normalize resting potential

32
Q

reduced thirst response when body fluid osmolality decreases affects

A

geriatric

33
Q

normal ranges of serum electrolytes are wider in

A

neonates

34
Q

at high risk for increased insensible water excretion is

A

neonates

35
Q

limited ability to concentrate urine or dilute it is

A

neonates

36
Q

decreased skin turgor is not a reliable sign of dehydration with

A

geriatrics

37
Q

assessment of jugular venous distention should not be used with

A

neonates

38
Q

age group at increased risk for hypocalcemia

A

neonates

39
Q

nondisjunction

A

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

40
Q

3 major processes involved in preservation and transmission of genetic information

A

replication
transcription
translation

41
Q

blood vessel endothelium is what type of tissue

A

epithelial

42
Q

most common type of genetic isorder

A

multifactoral/polygenic

43
Q

Down syndrome is what type of disorder

A

autosomal chromosome

44
Q

fragile x syndrome is characterized by

A

repeating sequences of three nucleotides

anticipation nonmendelian single gene disorder

45
Q

TORCH comples

A

are able to cross the placenta and infect fetus

46
Q

teratogenic potential of what infection begins before conception

A

rubella

47
Q

huntington

A

autosomal dominant

48
Q

neurofibromatosis

A

autosomal dominant

49
Q

polycystic kidney disease

A

autosomal dominant

50
Q

familial polyposis coli

A

autosomal dominant

51
Q

von willebrand

A

autosomal dominant

52
Q

marfan

A

autosomal dominant

53
Q

osteogenesis imperfecta

A

autosomal dominant

54
Q

familial hypercholesterolemia

A

autosomal dominant

55
Q

cystic fibrosis

A

autosomal recessive

56
Q

oculocutaneous albinism

A

autosomal recessive

57
Q

phenylketonuria

A

autosomal recessive

58
Q

alpha 1 antitrypsin deficiency

A

autosomal recessive

59
Q

sickle cell anemia

A

autosomal recessive

60
Q

thalassemia

A

autosomal recessive

61
Q

dechenne muscular dystrophy

A

x-linked recessive

62
Q

hemophilias a and b

A

x-linked recessive

63
Q

glucose 6-phosphate dehydrogenase deficience

A

x-linked recessive

64
Q

diabetes insipidus

A

autosomal dominant

65
Q

fragile X syndrome

A

sex-linked recessive

66
Q

trisomy 21

A

autosomal chromosome

67
Q

trisomy 18

A

autosomal chromosome

68
Q

trisomy 13

A

autosomal chromosome

69
Q

cri du chat syndrome

A

autosomal chromosome

70
Q

klinefelter syndrome

A

sex chromosome

male with multiple x’s

71
Q

turner syndrome

A

sex chromosome

one x and no y

Pathophysiology (80 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions