Brainscape's Knowledge GenomeTM

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


See full index

genetics concepts > Exam 2 Vocab > Flashcards

Exam 2 Vocab Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

what is malformation?

A

a morphological defect of an organ, results from intrinsically abnormal developmental process

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

what is syndromic cleft lip/palate?

A

associated with more than 300 malformations

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

what is nonsyndromic cleft lip/palate?

A

CLAP, diagnosis by exclusion

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

what are some traits of cardiac defects?

A

5-8 per 1000 births, 2-3 of those are symptomatic in first year, major cause of death in first year

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

what is ventricular septal defects?

A

most common anomaly of cardiac defects, coarctation of aorta

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

what is spina bifida occulta associated with?

A

occulta= closed

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

what is lipomeningocele associated with?

A

lipoma or fatty tumor located over the spine

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

what is meningocele associated with?

A

fluid filled sac but neural tissue unaffected

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

what is myelomeningocele associated with?

A

spina bifida

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

what are some lifelong disabilities associated with spina bifida?

A

paralysis, loss of bowel and bladder control, learning disabilities

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

what is folic acid’s importance?

A

used to prevent anemia, neural tube defects, CAD, stroke and cancer

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

what is significant about S-adenosyl methionine?

A

aka SAM most important carrier of methyl groups

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

what are the major roles of folic acid aka vitamin b9?

A

involved in the biosynthesis of thymidylate and the purine nucleic acid bases and involved in the methylation of homocysteine to produce methionine

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

what is disruption?

A

morphological defect of an organ, results from extrinsic breakdown of the normal developmental process (trauma or teratogen)

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

what is cataract caused by?

A

congenital rubella infection

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

what are limb defects caused by?

A

due to talidomide exposure

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

what is a teratogen?

A

a drug able to produce defects in the developing fetus

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

what is amelia

A

complete absence of limbs

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

what is phocomelia

A

absense of middle portion of the limb

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

what is hypoplasia

A

the absence of some bones

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

what does the immunomodulatory properties of thalidomide therapeutic properties treat?

A

leprosy

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

what does non immunomodulatory properties of thalidomide therapeutic properties treat

A

cancer

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

what is deformation

A

morphological defect of an organ, results from abnormal mechanical force

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

what is club foot

A

most common disorder of the lower extremity, one of both feet turn downward or inward

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

what is dysplasia

A

morphological defect of a tissue, results from abnormal organization of cells into tissue, often caused by single gene defects

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

what is achondroplasia

A

accounts for 70% of diagnosed cases of dwarfism, abnormal body proportions, hump on back, large head and flat nose, shortened stubby fingers, trident hand

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

what is sequence

A

cascade of defects, arise from single prior anomaly or mechanical complex, usually sporadic with low recurrence risk

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

what is a syndrome

A

pattern of defects (not causing each other but altogether caused by same cause), pattern of abnormalities is consistent and recognizable

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

what is waardenburg syndrome?

A

piebaldism, deafness, and patching skin coloring. Caused by RET gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what is the KIT gene mutation responsible for?

A

piebaldism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

what is association?

A

multiple abnormalities associated with each other, NOT sequence and NOT syndrome

32
Q

what does VATER stand for?

A 
V-vertebrate problems
A-anal abnormalities 
T-trachea problems
E-esophagus problems,
R-radius problems
33
Q

what is vater association?

A

malformations that tend to occur together more than might be expected due to chance

34
Q

what is teratogenesis

A

environmental factors which can adversely affect the developing embryo

35
Q

what is homeosis?

A

transformation of one body segment to another

36
Q

what are HOX genes?

A

occur on the chromosome in the linear sequence corresponding to the part of the body axis controlled

37
Q

what is IDX1/

A

a homeobox gene, required for pancreatic development

38
Q

what is PAX6 mutation?

A

aniridia, complete loss of the iris

39
Q

what is thanatophoric dysplasia?

A

mutation that increases receptor signaling by 100 fold

40
Q

what is holoprosencephaly?

A

failure of the embryo’s forebrain to divide to form bilateral cerebral hemispheres causing

41
Q

what is brachydactyly?

A

short fingers caused by IHH mutation

42
Q

what are chromosomes

A

units where dna is packaged into

43
Q

what does cytogenetics study

A

studies normal and abnormal chromosomes and their relationship to human development and disease

44
Q

what is karyotype

A

test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells

45
Q

what is sky (spectral karyotyping)

A 
a molecular technique 
used to 
simultaneously visualize 
all the pairs of chromosomes 
in an organism 
in 24 different colors.
46
Q

what is crossing over

A

an exchange of genetic material between homologous chromosomes,results in genetic recombination, Occurs during prophase I of meiosis (pachytene)
in a process called synapsis

47
Q

what is paternal uniparental disomy

A

chromosomal doubling in spermatozoid after fertilization,

Egg genome is eliminate for some reason

48
Q

what is maternal uniparental disomy

A

activation of unovulated oocyte

49
Q

what is aneuploidy

A

loss or gain of chromosomes

50
Q

what is polyploidy

A

extra set of chromosomes

51
Q

what is mosaicism

A

two cell lines within the same body: e.g. one normal, one with mutation or chromosomal abnormality

52
Q

what is chimaerism

A

two embryos mixed all together – e.g. male and female

53
Q

what is trisomy 13

A

(patau syndrome),multiple malformations, severe developmental delay, no speech development

54
Q

what is trisomy 19

A

edwards syndrome, severe talipes, horseshoe kidneys, severe retardation

55
Q

what is gynecomastia

A

small testes,
inability to produce sperm;
Could have breast cancer, male with female features

56
Q

what is triple x syndrome

A

Increased space between the eyes;
Epicanthal folds;
Could be mild intellectual impairment; could be not.
Sometimes neuromotor development is delayed….
Common problems with spontaneous abortion. Fertile, tall, looks normal

57
Q

what is a paracentric chromosomal abnormality?

A

doesnt include centromere, inversion or loss of the fragment

58
Q

what is pericentric chromosomal abnormality

A

includes centromere, inversion that includes centromere or loss of both telomeres with curling into the circle

59
Q

what is a balanced chromosomal abnormality

A

no net gain or loss of chromosomal material
Translocations and inversions. No phenotype produced except cases when:
– Chromosomal break disrupts important gene
– Break separate gene from regulatory element

60
Q

what is an unbalanced chromosomal abnormality

A

net gains or losses
Deletions and insertions
Unfortunately many translocations are accompanied by 100 kb – 1 Mb deletions

61
Q

what is robertsonian translocation

A

Only happens
with chromosomes
13, 14, 15, 21 and 22
(rDNA carriers)

Both centromeres are present,
but they function as one,
so chromosome is stable

62
Q

what is 4p syndrome

A 
Severe growth retardation 
Psychomotor delay and mental retardation
Dysgenesis of the corpus callosum 
Seizures
Renal hypoplasia 
Ventricular septal defect
-wolf-hirschorn syndrome
Facial features
63
Q

cri du chat syndrome

A 
aka 5p deletion, Low birth weight, 
may have respiratory problems,
Microcephaly,
Mental retardation, 
Facial features 
Normal life expectancy
In 80% of cases deletion is paternal
64
Q

what is williams beuren syndrome

A

aka 7q11.2 syndrome, mild mental retardation (some are normal);
Strengths in auditory memory and language, extreme weakness in 3D skills (writing, math);
Elastin artheriopahty (elastin gene is deleted), arteries is narrow;
distinctive facial features
Hypercalcemia
Overfriendliness, generalized anxiety, and attention deficit disorder

65
Q

what is jacobsen syndrome

A 
aka 11q syndrome, mild to moderate psychomotor retardation,
 trigonocephaly, 
facial dysmorphism, 
cardiac defects,
Thrombocytopenia
66
Q

what is smith magenis syndrome

A

an inversion of the circadian rhythm of melatonin : sleep disturbances
(sleep whole day, party all night)

self-injurious behavior: head banging; hand/nail biting; skin picking; pulling off fingernails and/or toenails “for fun and when bored”. Other behavioural disturbances.

67
Q

what is 22q11 deletion syndrome

A

a history of recurrent infection due to thymus agenesis or hypoplasia;
parathyroid gland hypoplasia (hypocalcemia)
heart defects
facial features.

68
Q

what are chromosome instability syndromes

A

Caused by Mutations that leads to increase in the rate of chromosome breakage
Chromosomal rearrangements are consequences, not a cause here
Often lead to increased chance of cancer

69
Q

what is raynauds sign

A

The fingers and/or toes

become white and/or blue ;

70
Q

what is CREST syndrome

A

Calcinosis (calcium deposits), usually in the fingers;
Raynaud’s spasm of blood vessels in response to cold or stress.
Esophagus muscle control loss (difficulty swallowing)
Sclerodactyly, a tapering deformity of the bones of the fingers;
Telangiectasia, small red spots on the skin

71
Q

what is nijmegen syndrome

A 
congenital microcephaly, 
mild dysmorphic facial appearance, 
growth retardation, 
immunodeficiency, 
high risk for lymphoid malignancy
72
Q

what is HNPCC

A

hereditary nonpoliosis colon cancer, inherited defect in mismatch repair enzyme, so patients accumulate a very high rte of genetic mutations

73
Q

what is the key word to understanding of cancer phenomenon

A

progression

74
Q

what are oncogenes

A

function to promote cell growth or inhibit cell death

75
Q

what do tumor suppressor genes do

A

function to inhibit the oncogenic process, frequently act in recessive fashion

76
Q

what is embolous formation

A

Cancer cells travel through the circulatory system
until it grows into a small plug.
Only 0.01% of cancer cells survive in circulation

genetics concepts (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions