Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pathology > Ch. 22 Congenital and Childhood Disorders > Flashcards

Ch. 22 Congenital and Childhood Disorders Flashcards

1
Q

Normal Pregnancy and Gestation: weeks 1-8

A

organs are formed (embryo stage)

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

Normal Pregnancy and Gestation:Weeks 9-13

A

face and limbs

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

Normal Pregnancy and Gestation:2nd trimester

A

rapid growth

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

Normal Pregnancy and Gestation:3rd trimester

A

maturation, refinement

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

placenta has ( ) plates

A

fetal and maternal

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

acts as fetal lungs, kidneys, GI tract

A

placenta

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

provides O2 and nutrients, diposes of metabolic wastes

A

placenta

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

job of gene

A

to make a protein

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

chromosomes: 22 pairs, govern all but gender

A

autosomes

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

chromosomes: gender determination

A

sex (X, Y)

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

critical thing about stem cells

A

asymetrical division

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

cells: all tissues but germ cells of ovary/testis

A

somatic

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

cells: stem cells that produce ova and sperm

A

germ cells

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

only ( ) chromosome defects are transmissible

A

germ cell

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

germ cell chromosome defects maybe be sex-link but most are…

A

autosomal

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

change from preestablished point

A

deformations

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

not well made from the beginning

A

malformations

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

deformation are caused by ( ) factors

A

mechanical

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

normal pregnacy= ( ) weeks

A

40-42 weeks from LMP

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

each trimester how long

A

~13 weeks

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

malformations caused by ( ) factors, which cause failure of embryologic

A

environmental (not transmissible) or genetic (transmissible)

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

space to close: neural tube doesn’t close

A

spinda bifida

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

tissue to divide:

A

syndactyly

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

structure to disappear:

A

thyroglossal duct cyst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
organ to differentiate/grow:
thalidomide limb
26
normal pregancy and gestation: embryo
through 8th week
27
normal pregancy and gestation: fetus
week 9 to term
28
number of pregnancy
gravidity
29
number of pregnancies reaching 24 weeks
parity
30
ectoderm turns into
hair, nails, epidermis
31
endoderm turns into
mucosa of GI/resp tracts and liver, pancreas
32
mesoderm turns into
dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads
33
mesoderm turns into
dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads
34
absense of environemtnal factors (ex. deficient folate leads to)
neural tube defects
35
environmental presence: an agent causing a defect is a ( )
teratogen
36
envircomental factors present: TORCH infections
toxoplasmosis, Zika/syphalis/others, rubella, cytomegalovirus, herpes
37
fetal alcohol syndrome is a ( ) factor
environmental
38
fetal alcohol syndrom: ( ) cells affected
somatic
39
is fetal alcohol syndrome transmissible?
no
40
TORCH infections are environmental factors tat cause congenital ( )
malformations
41
TORCH: ( ) cells affected
somatic
42
TORCH: ( ) not transmissible but ( ) may be
- condition | - infection
43
( ) > chromosomes > genes > ( )
- genome | - bases
44
genetic bases
adenine, cytosine, thymine, guanin (ACTG)
45
( ) is the genetic code
base sequence
46
a specific segment of DNA; makes one certain protein
gene
47
human have ~ ( ) genes
19, 000
48
genetic makeup
genotype
49
physical expression of genotype
phenotyme
50
a permanent change in DNA
mutation (can be change of as little as one letter_
51
genetic disease: causation purely genetic, mendelian rules
monogenic
52
genetic disease: environmental feactors very important
polygenic
53
genetic disease: causation purely genetic
cytogenetic
54
genetic disease: sickle cell
monogenic
55
genetic disease: type II diabetes
polygenic
56
genetic disease: down syndrome
cytogenetic
57
the DNA mutation in sickle cell disease is a ( ) mutation
point
58
one of a number of alternative forms of the same gene (ex. one from om and one from dae; or mutation)
allele
59
identical alleles
homozygous
60
non-identical alleles
heterozygous
61
( ) alleles have greater power of penetrance
dominant
62
one element: the percent with the allele who show some effect
penetrance
63
two elements of expressivity
severity and manner
64
mendel's rules: expression of ( ) disorders requires only one copy of the defective gene
autosomal dominant
65
mendel's rules: expression of ( ) disorders requires both copies of the defective gene
autosomal recessive
66
mendel's rules: rrecessive alleles on ( ) chromosomes are expressed
sex chromosomes (almost always X)
67
x-linked recessive gene inheritance:
classic hemophilia
68
mendel's rules: single-gene defects are clinically expressed according to the type of ( )
defective protiein produced by the gene
69
single-gene: ( ) protein --> alpha-1 antitrypsin (emphysems)
enzyme
70
receptor or transport protein: copper (wilson's disease)
transport
71
receptor or transport protein:liver LDL cholesterol (familial hypercholesterolemia)
receptor
72
cell growth regulation protein: protooncogene
pro-growth
73
cell growth regulation protein: tumor suppressor
anti-growth
74
defective fibrillin
Marfan syndrome
75
defective coagulation factor VIII
hemophilia
76
excess of CGG (on long arm of X)(trinucleotide repears)
fragile X syndrome
77
environmental alteration of gene expression without DNA mutation. Can be heritable.
epigenetics
78
expression of defect differs according to gener of parent
genomic imprinting
79
most disease is ( ), a mix of environmental and genetic factors
multifactorial
80
mutation affects either sex but transmibble only by female (mother --> daughter)
mitochondrial DNA genome
81
normal genotype
46, XY
82
structural chromosome abnormalities
extra or missing chromosomes
83
some cytogenetic diseases are due to abnormal numbers of ( ) (down syndrome)
autosomes
84
some cytogenetic dieseases are due to abnormal numbers of ( ) (klinefelter syndrome)
sex chromosomes

Pathology (14 decks)

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