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Spring '14-127 (Exam 1) > 1/27/14-Embryological Development & Orofacial Development > Flashcards

1/27/14-Embryological Development & Orofacial Development Flashcards

1
Q

What is an embryo?

A

from fertilization to 9 weeks

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2
Q

What is a fetus?

A

from 9 weeks to birth

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3
Q

What is a neonate?

A

From birth to 1 month?

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4
Q

What is an infant?

A

1 month to 2 years

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5
Q

After surgery who is the driving member of the cleft palate team?

A

the SLP

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6
Q

What is the first process in embryological development?

A

sperm and egg each carry half of the genetic information and half of the chromosome count that develops into a whole person

when the sperm and egg meet, this is the first process

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7
Q

What is meiosis?

A

the process of cell division that leads to a sperm and an egg. it is a very specialized process of cell division because it results in that division of chromosomal material

meiosis results in that haploid of a cell division

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8
Q

what is a gamete?

A

sexual cell

it is the haploid # of chromosomes, so 23 chromosomes.

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9
Q

How many pairs of chromosomes are in a human cell?

A

23, therefore, 46 chromosomes!

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10
Q

How many chromosomes does the ovum carry?

A

22 chromosomes plus the x chromosome

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11
Q

how many chromosomes does the sperm carry?

A

22 chromosomes plus the y chromosome

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12
Q

What is a zygote?

A

a one celled organism that has 46 chromosomes/23 pairs.

one simple, nucleated cell

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13
Q

What creates a gamete?

A

meiosis creates a gamete, then a gamete creates a zygote, from here on out it becomes MITOSIS!

Extra info: (MEIOSIS only occurs in the beginning it is the “sexual part of it” it takes the haploid cells which only have 23 chromosomes (sperm/egg) and combines them with the sperm and egg, once combined the chromosomes begin to split and duplicate)

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14
Q

What is mitosis?

A

your basic normal cell division

it is what takes place in every single cell

it is NORMAL cell division that takes place at all times. Cells are damaged/get old and die, mitosis is the process of fixing it.

It is cell division that replicates and creates a cell EXACTLY like it.

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15
Q

What occurs in the first 24 hours after fertilization?

A

the cell division process begins. From there on out all the major processes of cell division can be broken down into two major categories: segmentation and cell differentiation

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16
Q

What is segmentation?

A

it is essentially mitosis. It is the duplication of the chromosomes and the division of the cytoplasm. The chromosomes are contained in the nucleus of the cell.

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17
Q

What is a blastomere?

A

after the zygote splits into two– it is a blastomere (now you have two cells).

when you have 2 cells the bigger cell divides again, now you have 3, then the bigger cell divides again, now you have 5.. and so on and so on…

This process continues for 72 hours/roughly 3 days

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18
Q

What is a Morula?

this is kinda confusing, check notes and pictures

A

it occurs after 72 hours

the embryo is floating in the uterine fluid. @ this point the fluid is passing through the cells of the morula, it doesn’t have a wrapping yet!

@ 6 days the blastomere becomes a blastocyst! b/c the blastocyst starts to develop an outer wrapping.

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19
Q

Once the blastomere becomes a blastocyst (develops an outer wrapping) what occurs?

A

the 2nd major process of cell division–cell differentiation

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20
Q

between 72 hours/3 days & 6days what does the embryo do?

A

it attaches to the uterine wall

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21
Q

What does cell differentiation do? (short answer)

A

turns berry looking picture (just a bunch of cells) into a child.

it is differentiating cells and giving them different jobs (i.e.: kidneys, liver, skin, etc…)

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22
Q

What is a trophoblast?

A

the wrapping of the blastocyst.

inside the throphoblast is the inner cell mass. once the blastocyst is attached to the uterine wall, that’s where cell differentiation goes wild! @ this point it is still undifferentiated..

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23
Q

What is gastrulation?

A

-somewhere between the 9th & 12th day the inner cell mass turns inside out, this is called gastrulation?

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24
Q

Describe gastrulation

A

This is the most important day of your life. If something goes wrong, this can lead to spontaneous abortion/miscarriage.

Gastrulation changes the embryo from what was a fairly sturdy, multi-cell organism into something fragile.

Gastrulation makes the organism more susceptible to damage. Damage to mother cells, leads to damage all the way down the line in cell duplication.

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25
Q

At 12 days what occurs?

A

cell differentiation results into what is called the embryonic disk. It’s not just a bunch of cells anymore, now they are organized cells. This is the first time that embryonic differentiation will result into different tissues?

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26
Q

What does the embryonic disk turn into?

A

3 layers—

  1. Ectoderm (outer layer)
  2. Mesoderm (middle layer)
  3. Endoderm (inner layer)

** These are the 3 layers of a cell!

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27
Q

Describe the ectoderm

A

-skin, hair, teeth– it is everything that interacts with the environment, but it also includes your entire nervous system!

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28
Q

What is the largest organ in your body?

A

skin

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29
Q

What does the ectoderm also for the epithelial lining of?

A

your mouth nose, and basically anything that touches air

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30
Q

Describe the mesoderm

A

this creates the connective tissues of your body. STRUCTURAL ELEMENTS–bone, cartilage, blood vessels, etc.

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31
Q

Describe the endoderm

A

the deepest of the 3 layers. It is the inner skin, it lines the digestive tract, the thoracic cavity, the respiratory tract

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32
Q

What are cells programmed to do?

A

to differentiate

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33
Q

What is the chromosomal cell/genetic content considered to be?

A

the map/directions that change cells into what they eventually become

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34
Q

What are chromosomes made up of?

A

chromosomes are made up of genes

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35
Q

What are genes made up of?

A

DNA

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36
Q

What is DNA made up of?

A

nucleotide pairs

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37
Q

What do Nucleotide pairs make up? describe the pattern.

A

Nucleotide pairs make up DNA

DNA make up genes

Genes make up chromosomes

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38
Q

How are nucleotide pairs “highly regulated”?

A
  • they have a set # and order of nucleotide pairs

- This is what makes up a specific strand of DNA

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39
Q

What are nucleotide airs made up of?

A

sugars–deoxiribose (the “d” in DNA)

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40
Q

Describe what a strand of DNA is made up of

A

sugar and phosphate + a base. The sugar and phosphate make the structure, the base makes the “rungs to the ladder.” The base is made upon pairs of amino acids (protein).

41
Q

What are the 4 amino acids that make up the bases?

A

Guanine, Cytosine, Thyamine, and Adenine

Those 4 amino acids make unlimited combinations b/c the strands of DNA can be longer or shorter, you can change the order as well as the #! BUT the nucleotide pairs really always come in pairs:

  • Adenine combines with Thyamine (A & T)
  • Guanine combines with Cytosine (G & C)
42
Q

What are the code of the function of an organism?

A

Strands of DNA that make up the genes, they are the instructions that shape your physical appearance and your function.

They regulate your digestive system, your emotions, EVERYTHING!

43
Q

What are considered the blueprints of our physical characteristic and our behavior?

A

Genes

44
Q

What percent of who you are is inherited?

A

90%

45
Q

What is the problem with nucleotide pairs?

A

some nucleotide pairs (the order of them) doesn’t work! Those variables are not set in stone

(this is what causes problems)

46
Q

What is a karyotyp?

A

a picture of chromosomes

the chromosomes are different sizes and shapes

47
Q

What are the chromosomes called?

A

the first 22 pairs are called autosomes

the 23rd pair are the sex chromosomes (x/y)

48
Q

Where are autosomal disorders carried?

A

in the first 22 pairs of chromosomes

49
Q

Are all chromosomal disorders carried on the autosomal pairs?

A

No, there are some disorders that are carried on the x/y chromosomes, but most originate in the autosomal pairs.

50
Q

We don’t understand much of what chromosomes do, and what many of their functions are, but we know that chromosomes can do 2 things. what are they?

A

-chromosomes can act as a switch or carry instruction

x/y chromosomes often participate in the “Switch activity”

51
Q

Currently, how much does mapping your genes cost?

A

$2 million

52
Q

What is the narrowing place (waist) of a chromosome called?

A

centromere

53
Q

Above the centromere, what do you see?

A

the shorter arms or the p-arms

54
Q

below the centromere, what do you see?

A

the longer arms or the q-arms

55
Q

What part of the chromosome is the centromere found in?

A

upper 1/3rd of a chromosome

56
Q

How do genes appear on chromosomes?

A

they appear as bands, it is the genetic concentration making them lighter or darker.

Dark band=higher concentration genetic content
light band=lower concentration of genetic content

57
Q

Which chromosome has the most genes, which one has the least?

A

chromsome #1-Most (2968)–it has the biggest chromosome pair.

y chromosome-smallest chromosome (this is why there are more disorders in males than females, it is little & carries little information)

58
Q

How much of the function of our genes do we still not understand?

A

roughly 1/2 of our genes

59
Q

What is current theory about genes in terms of their function?

A

-some genes carry a trait and others are activators/switches

They either make something happen, or NOT happen

60
Q

Mitosis means that there is a replication of the chromosomes and all the base pairs, when they are not copied exactly, what is it considered to be?

A

a mutation/error.

When the copy is not exact, it is a mutation in the DUPLICATION

61
Q

Describe a mutation

A

A mutation is an error in replication. It may have happened at the level of the parent cell. So an error may have happened in the parent cell or in the actual human parents. The parents may have normal cells,but in the process of meiosis, an error may have occurred–this would result in a disorder/mutation in a child.

62
Q

Describe spontaneous mutations

A

parents are normal, offspring is not

63
Q

What is the most common mutation error?

A

spontaneous mutation, it is very common with cleft palate

a spontaneous mutation may happen along the process of development, not just during meiosis. Once cell differentiation begins, a mutation early in the developmental process can be devastating

64
Q

What is inherited factor/mutation?

A

if the mutation occurs in parent and is transferred to offspring (i.e.: mom has disorder-daughter has disorder)

65
Q

If a mutation was to occur, when would it be more severe/less severe?

A

the later in the developmental process that a mutation happens, the more “normal” an organism will be

66
Q

What is a teratogenic mutation?

A

a mutation caused by a teratogen (i.e.: radiation, alcohol, drugs, measles)

teratogen’s can be naturally occurring or self-inflicted.

67
Q

What is a monosomy mutation?

A

one of the chromosomal pairs is deleted, there is only one nucleotide. This is a DRASTIC mutation

68
Q

What is a trisomy mutation?

A

3 chromosomes where there should be two! Trisomy 21=Down Syndrome. An extra copy

69
Q

What is a Deletion mutation?

A

this is where part of the chromosome (one nucleotide strand) is missing

70
Q

What is an Inversion mutation?

A

a genetic inversion. B/c genes are made up of specific numbers & orders, this means that the material is there but it literally turned 180 degrees backwards, thus it is useless

71
Q

What kinds of “typical mutations” ALWAYS lead to FORM AND FUNCTION problems?

A

Monosomy & Trisomy

72
Q

What is translocation?

A

A piece of information that is not on a the correct gene, it is someplace else. This is not a duplication!

73
Q

What is variable expression?

A

mutations can have variable expression–meaning very different results! Not just in function, but in phenotype as well..

74
Q

What is phenotype?

A

Literally, how you look, the things you can see–these are in the structure and function of our bodies

75
Q

What is genotype?

A

this is the construction of the chromosome. Genotypes are not visible. They may have genetic/genotypical variation that has no effect on the phenotype.

76
Q

What is autosomal dominate?

A

an autosomal dominant trait is the one that is passed on. Unfortunately, many syndromes are autosomal dominant

77
Q

What is autosomal recessive?

A

does not show up in offspring unless BOTH parents carry the trait

78
Q

What does x-linked mean?

A

genetic traits that are passed from the mother (i.e.: fragile X)

79
Q

What does multifactorial mean?

A

something to do with the genetic material itself and the environment. The link is most often not understood.

80
Q

What is incomplete penetration?

A

Means that there is an individual carrying the gene (or mutation) but no expression of that gene.

(ie: if there is no translocation but there is no expression of it in the phenotype–that means this is incomplete penetration)

81
Q

What kind of chromosome analysis makes monosomy and trisomy very EVIDENT?

A

karyotype

82
Q

What is FISH?

A

fluorescence in Situ Hybridization, this is a chromosomal analysis that is used to identify Cleft

83
Q

What is dismorphology?

A

there is penetration, the subject doesn’t look like it should

84
Q

What is an anomaly?

A

a difference

85
Q

What is syndrome?

A

has a single cause (i.e.: trisomy, monosomy, deletion, inversion) but there is a constellation of symptoms that are traced back to that single cause

86
Q

What is sequence?

A

a chain of events

one event led to another, b/c the second event occurred, the 3rd occurs
(1 does not cause 3, 1 causes 2, 2 causes 3)

ie: Pierre Roban–clefting event that is a sequence

A sequence is usually a mechanical factor, a single factor causing a chain reaction

87
Q

What is a gene?

A

a region of DNA that controls a hereditary characteristics. It usually corresponds to a sequence used in the production of a specific protein or RNA.

GENES ARE SWITCHES !!

88
Q

What is clefting most often caused by?

A

a spontaneous mutated gene

it is primarily chromosomal aberrations, however it can be inherited–a genetic disorder can be relatively small part of the genetic code

89
Q

T/F

Craniofacial syndromes are passed along

A

TRUE

ex: a multifactorial cause of cleft palate that could potentially be inherited & environmental. Genetic component shape of face develops slower than the “normal” timeline. Then, mom caught a cold that puts a hiccup in the development of the baby–that led to a cleft palate–this is genetic + environment=MULTIFACTORIAL

90
Q

What is merging?

A

process of the face growing forward (i.e.: tongue)

91
Q

What is fusion?

A

process of two structures growing toward each other and coming together. The cells integrate and fuse to form your face.

There is cellular deterioration on the edges of the two structures and they eventually become one (i.e.: palate, sutures of skull are fusion)

92
Q

In fusion, what do the cells that merge to become?

A

synarthrodial joints–immovable joints

93
Q

What are branchial arches?

A

(the bumps in the picture of embryo @ 27 days) All vertebrates go through this phase.

In the human embryo there are 5 pairs of branchial arches

94
Q

What is the 1st branchial arch?

A

mandibular arch–it also forms the maxilla

95
Q

What is the 2nd branchial arch?

A

Hyoid arch

96
Q

What is the 3rd branchial arch?

A

thyrohyoid arch

97
Q

What are the 4th & 5th branchial arch?

A

not distinct or named

98
Q

What part of the embryo relates to clefting?

A

branchial arches

there can be a cleft between the zygomatic arch and the mandible. it has the appearance of being much more vertical rather than a horizontal cleft

Spring '14-127 (Exam 1) (5 decks)

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