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Genetics Exam 2
VCOM Block 1 2011
244
Biology
Graduate
10/05/2011

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Term
neoplasm
Definition
disease process characterized by excessive cellular proliferation leading to a cell mass or tumor
Term
cancer
Definition
a neoplasm that has become malignant (capable of invading neighboring tissues)
Term
benign tumor
Definition
noninvasive neoplasm
Term
metastasis
Definition
when a cancer spreads to a distant site within the body
Term
sarcoma
Definition
cancer of mesenchymal origin such as bone, connective tissue or muscle
Term
carcinoma
Definition
cancer of epithelial origin
Term
hematopoietic and lymphoid malignancies
Definition
cancer of RBC and WBC progenitors
Term
melanoma
Definition
cancer of pigment cells
Term
teratoma
Definition
cancer of embryonic cells. can consist of several types of differentiated tissues. most common is mesenchymal origin.
Term
oncogenes
Definition
genes that when mutated have altered function resulting in abnormal stimulation in cell division and proliferation
Term
proto-oncogene
Definition
nonmutated oncogene promoting cell proliferation in a specific tissue
Term
cellular oncogene
Definition
increased activity of proto-oncogene (mutated)
Term
dominant mutation
Definition
mutation in only one allele enough to change phenotype of cell
Term
mutation in coding region
Definition
oncogene product overly active or no longer under normal molecular control
Term
mutation in upstream regulatory element
Definition
over transcribed
Term
amplification of genomic number
Definition
detected in karyotypes as homogenous staining regions in chromosomes or as double minutes
Term
mutation via chromosomal rearrangement
Definition
can change upstream regulation or form chimeric protein that acts as an oncogene; The Philidelphia chromosome translocation
Term
viral oncogene
Definition
proto-oncogene inadvertently incorporated by a virus, mutated, and then inserted into human chromosome
Term
functions of oncogenes
Definition
growth factors, growth factor receptors, intracellylar secondary messengers such as G-proteins and kinases, gene regulatory proteins, telomerase, antiapoptotic proteins, cell cycle factors
Term
tumor suppressor genes
Definition
contribute to oncogenecity through loss of function (must lose both alleles in a cell)
Term
loss of heterozygosity
Definition
individuals who are heterozygous for the loss of a tumor suppressor gene lose their sole functional copy of the gene leading to cancer
Term
telomerase
Definition
enzyme required to replicate ends of DNA, shortening may partially act as an aging mechanism in cells,most cancers have this
Term
Philadelphia chromosome translocation
Definition
A derivative of chromosome 22, which has exchanged part of its long arm for a segment of material from chromosome 9q that contains the ABL oncogene. Formation of the chimeric BCR-ABL gene is the critical genetic event in the development of chronic myelogenous leukemia
Term
translocation break points
Definition
originally used to map loci of oncogenes
Term
inherited deletions
Definition
oncogene activation or loss of tumor suppressor genes
Term
hypomethylation
Definition
early event in many cancers leading to expression of normally silent allele which converts proto-oncogene to cellular oncogene
Term
hypermethylation
Definition
can lead to silencing of a tumor suppressor gene
Term
chemotherapeutic drugs
Definition
target proteins only needed in rapidly dividing cells
Term
non-malignat cells of body that are also rapidly dividing
Definition
skin, hair, GI tract, RBC precursors, immune cells, etc
Term
Methotrexate
Definition
inhibits dihydrofolate reductase to target rapidly dividing cells
Term
gene amplification
Definition
mechanism of resistance to chemotherapy
Term
resistance to methotrexate
Definition
amplification of the dihydrofolate reductase gene
Term
amplification of a membrane protein gene
Definition
prevents uptake of drug
Term
nonrandom mating
Definition
increase incidence of disease of selected allele
Term
assortive mating
Definition
the tendency to marry based on shared characteristics
Term
consanguinity
Definition
marrying of blood relatives
Term
lethal trait
Definition
allelic frequency should decrease
Term
heterozygote advantage
Definition
carriers may have increased fitness against certain pathogenic conditions, which will increase allelic frequency. ex - sickle cell carriers and cystic fibrosis carriers are more resistant to cholera
Term
small population size
Definition
changes in allelic frequency significantly vary generation to generation
Term
founder effect
Definition
when all individuals of a population are descended from a relatively small number of ancestors, one of whom had a rare allele. ex - polydactly among Amish groups, albinism among Hopi indians, variegate porphyria from Afrikaners of South Africa
Term
indications for genetic prenatal diagnosis
Definition
maternal age 35 or greater; previous child with a de novo mutation; presence of a structural abnormality in a parent; family history of a genetic disorder that can be detected by biochemical or DNA analysis; maternal serum or ultrasound detects possibility of chromosomal disorder in low risk mothers
Term
amniocentesis
Definition
syringe inserted through abdominal wall to remove sample of amniotic fluid; there isn't enough amniotic fluid until week 16; cells are isolated and cultured; fluid itself can be analyzed
Term
chorionic villus sampling
Definition
biopsy needle inserted through abdominal wall or through vagina to obtain sample of chorionic villus; can be performed during weeks 10-12; rapid rate of cell division so you are able to perform a karyotype without culturing cells
Term
Percutaneous umbilical cord blood sampling
Definition
allows culturing of fetal WBCs which can be cultured faster and easier than epithelial cells obtained by amniocentesis; can be performed after week 20
Term
genetic screening
Definition
population based method for identifying persons with certain genotypes known to be associated with a genetic disease or predisposition to a genetic disease. differs from genetic testing due to size of population involved
Term
phenylketonuria
Definition
prototype neonatal screening program.
Term
hemachromatosis
Definition
only disease where adult screening is proposed; it is an autosomal recessive disorder affecting 3/1000 in US; iron overload leading to permanent organ damage; successfully treated by phlebotomy; can test with iron-transferrin levels or molecular test
Term
heterozygote screening
Definition
tests for healthy individuals who are at risk for having affected children
Term
Tay Sachs disease
Definition
among Jews of eastern European descent; successfully reduced by genetic screening
Term
Beta-thalassemia
Definition
in Cyprus; successful reduction of incidence through heterozygout screening
Term
Sickle Cell
Definition
in African Americas; no decrease in incidence due to genetic screening
Term
Cystic fibrosis
Definition
in Caucasian Americans; proposed that we test for heterogeneity; but there are several recessive alleles that cause it, which makes testing more expensive or insensitive
Term
standard prenatal screening
Definition
serum alpha-fetoprotein and karyotyping with advanced maternal age
Term
pharmacogenetics
Definition
deals with the influence of genetic variation on drug response in patients by correlating gene expression wiht a drug's efficacy or toxicity.
Term
most common focus of pharmacogenetics
Definition
drug.cell interaction (efficacy) and breakdown (side effects)
Term
bimodal or trimodal distribution of drug responses
Definition
under monogenic control
Term
Gaussian distribution
Definition
under control of many genes
Term
warfarin
Definition
anticoagulant drug; metabolized by cytochrom P450; two mutant alleles within the population produce highly reduced metabolism, so these individuals require lower dose to prevent unwanted bleeding
Term
abacavir
Definition
reverse transcriptase inhibitor used to treat HIV; 5% of patients demonstrate fatal hypersensitivity; responsible gene not yet determined
Term
single nucleotide polymorphisms (SNPs)
Definition
1/1000 bases within human genome demonstrate variation with most being bi-allelic
Term
DNA microarrays
Definition
used to determine SNPs
Term
computer analysis of microarrays
Definition
determination of which SNP correlates to patients who are hypersensitive/do not respond to a particular drug
Term
gene therapy
Definition
a technique for correcting defective genes responsible for disease development
Term
most common approach to gene therapy
Definition
normal gene inserted into genome to replace a nonfunctional gene
Term
other approaches to gene therapy
Definition
mutated gene exchanged for a wild type gene through homologous recombination; mutated gene repaired through selective reverse mutation; regulation of a particular gene altered; inhibit translation of mutant gene
Term
in vivo delivery of gene therapy
Definition
inject cloned gene into person
Term
ex vivo delivery of gene therapy
Definition
take patient's cells from them, grow and culture with cloned gene of interest, then return to patient
Term
viral vector delivery of gene therapy
Definition
virus inserts genome into host genome; can be used to insert gene of interest
Term
non viral vectors for delivery of gene therapy
Definition
naked DNA, liposome, receptor mediated endocytosis, stem cell therapy
Term
liposome-mediated gene therapy
Definition
add DNA of interest to liposome, insert liposome into human cell, it goes to nucleus and results in the tranlation of this gene
Term
embryonic stem cells for gene therapy
Definition
transfer normal gene or correct mutation in vitro to a culture of patient's cells; insert the patient's corrected nucleus into a donor egg; allow egg to develop into blastocyst; culture genetically corrected autologous stem cells for transplantation; insert into patient
Term
challenges to overcome to liscence gene therapy in US
Definition
improve gene transfer efficiency (particularly for non-viral vectors), new DNA must be incorporated into chromosome to insure long-term function, site specific incorporation to avoid insertioal mutagenesis, immune response/toxicity issues
Term
Prenatal
Definition
period of development from fertilization to birth
Term
Embryonic period
Definition
period of development from fertilization to the end of week 8
Term
Fetal period
Definition
period of development from the beginning of the 9th week until birth
Term
Cell division
Definition
cell numbers increase by dividing (mitosis) causing growth and an increase in size
Term
Cell migration
Definition
cells are often produced in one region of the body then move to their final destination
Term
Cell differentiation
Definition
cells convert from a general non specific form into a more mature cell type of function
Term
cell to cell interaction
Definition
cells play with their neighbors through contact or chemical cues to initiate migration and differentiation
Term
Apoptosis
Definition
programmed cell death; normal planned death of cells to shape or sculpt anatomic structures
Term
signaling molecules
Definition
are present on the surface of cells. they span the plasma membrane and respond to changes in extracellular environment by altering gene expression
Term
cell adhesion molecules
Definition
span the plasma membrane. internally bind to cytoskeleton and externally binds to other cells or the ECM. they allow attachement to adjacent cells and facilitates guided cell migration along specified paths
Term
secreted growth factors
Definition
released by cells into the surrounding fluid. can act on adjascent cells or through concentration gradients across a distance to control cell growth and differentiation.
Term
Fibroblast Growth Factor (FGF)
Definition
regulates blood vessels, limb, brain, and axon growth
Term
Hedgehog
Definition
regulates nervous system, gut and limb, regional patterning
Term
WNT
Definition
regulates limb, brain, and urogenital differentiation
Term
Transforming growth factor B (TGFB)
Definition
regulates cell division, cell migration, cell death
Term
pre-auricular tag
Definition
malformation from excessive cell division
Term
Cleft Lip
Definition
malformation from insufficient cell migration into the developing upper lip tissue
Term
Polydactyly (webbed fingers)
Definition
maformation from incomplete apoptosis
Term
Cleft Palate
Definition
if rotation of the palate shelves happens either too early or two late, the shelves do not fuse
Term
teratogen
Definition
a compound or agent that disrupts embryonic or fetal development
Term
critical period
Definition
when an organ system is sensitive to the effects of a particular teratogen. occurs during organ formation or during a vital maturational step.
Term
fetilized egg
Definition
consists of cytoplasm, 2 haploid nuclei, cell membrane, and zona pellucida
Term
zona pellucida
Definition
glycoprotein layer that acts as a protective shell around fertilized egg through late blastocyst stage
Term
zygote
Definition
when the male and female nuclei combine and the cell begins to divide
Term
cleavage
Definition
cell division
Term
blastomeres
Definition
early embryonic cells, still enclosed in zona pellucida
Term
totipotent
Definition
blastomeres up to the 8-cell stage retain the ability to develop into a complete embryo. identical twins result in one of these blastomeres separates off or the zygote splits
Term
morula
Definition
16 cell stage. tightly compacted. 3-4 days after fertilization
Term
inner cell mass
Definition
cells at the center of the morula and will become the embryo proper
Term
outer cell mass
Definition
cells at the periphery of the morula and will become the trophoblast
Term
trophoblast
Definition
the precursor of the placenta
Term
blastocyst
Definition
zona pellucida begins to disentigrate 5-6 days after fertilization. fluid comes into the morula through the disintegrating zona pelucida and forms a fluid filled cavity. attaches to uterine wall around day 7
Term
blastocoel
Definition
first fluid filled cavity
Term
trophoblast
Definition
outer cell mass is now one layer thick around the outside of the blastocoel cavity and will go on to form the placenta
Term
embryoblast
Definition
inner cell mass is pushed to one side as the blastocoel forms
Term
embryonic pole
Definition
the side of the blastocyst with the embryoblast. this is always the side that attaches to the endometrium.
Term
uterine tube
Definition
where fertilization takes place and then the zygote divides
Term
implantation
Definition
process by which the blastocyst attaches and becomes embedded in the uterus. begins 6-7th day and continues til day 10.
Term
endometrium
Definition
uterine lining
Term
syncytiotrophoblasts
Definition
when the trophoblast at the embryonic pole contacts the endometrium; they produce compounds that erode the uterine endometrium and allow them to grow into the endometrium. they continue to divide and their cell membranes fuse to form a continuos multinucleated mass with no internal cell boundaries. as it enlarges, the blastocyst is drawn deeper into the endometrium.eventually surrounds entire blastocyst.
Term
cytotrophoblast
Definition
remaining cells of the trophoblast surrounding the blastocystic cavity and the embryoblast. they form a distinct layer between the embryoblast and the differentiated syncytiotrophoblast. as the blastocyst is pulled further into the endometrium, more of it comes into contact with endomedium and differentiates into syncytiotrophoblast. after the blastocyst is fully implanted, these cells remain as a layer around the blastocoel and over the embryoblast.
Term
lacunae
Definition
in the syncytiotrophoblast, cavities that join with eroded maternal arteries and veins to supply the developing embryo with oxygen and nutrients and allow for removal of CO2 and metabolic wastes. blood must cross the cytotrophoblast to get to the embryo.
Term
primary chorionic villi
Definition
extensions of the cytotrophoblast into the syncytiotrophoblast. as they grow, they protrude into the lacunar network where they are bathed by maternal blood, then over time they branch and are supplied with blood vessels from the embryo. fetal blood does not mix with maternal blood. this increases the fetal vasculature surface area.
Term
body of the uterus
Definition
normal site of implantation
Term
ectopic pregancy
Definition
implantation occurs outside the uterine body. the inelastic uterine tube ruptures by the 8th week causing embryonic death and maternal hemorrhage. usually occurs due to scaring of hte uterine tube by STDs or PID.
Term
ampulla and isthmus
Definition
95% of ectopic implantations. regions along uterine tube
Term
uterine tube scarring
Definition
causes 40% of all female infertilities
Term
fimbria
Definition
finger-like projections off infundibulum. if the egg is fertilized here, it may implant on the ovary or in the abdominal cavity.
Term
Rectouterine pouch and mesentaries
Definition
areas where abdominal pregnancies often occur
Term
hypoblast
Definition
layer of embryoblast cells located on the border between it and the blastocoel
Term
epiblast
Definition
remaining embryoblast cells after hypoblast has differentiated
Term
amniotic cavity
Definition
cavity formed within the mass of epiblast cells. it enlarges, spreading the epibast into a single layer of cells around the cavity
Term
amnion or amniotic membrane
Definition
epiblast cells comprising the arch of the dome that become thin
Term
bilaminar embryonic disc
Definition
the thick epiblast layer at the base of the dome and the hypoblast layer. these form the embryo
Term
exocoelomic membrane
Definition
cells from the marginal edge of hte hypoblast disc grow over the cells of hte cytotrophoblast forming a lining in the blastocoel
Term
primary yolk sac or primary umbilical vesicle
Definition
blastocoel is now called this once the exocoloemic membrane grows down over the cytotrophoblasts
Term
extraembryonic mesoderm
Definition
layer of cells derived from the excocoelomic membrane that forms between it and the cytotrophoblast. it grows around the outside of the exocoelomic cavity, the epiblast, and the amniotic cavity
Term
chorionic cavity or extraembryonic coelomic cavity
Definition
spaces begin to form in the new extraembryonic mesoderm layer and they coalesce into a continuous cavity. it splits the extraembryonic mesoderm into two distinct sheets
Term
extraembryonic somatic mesoderm
Definition
lines the cytotrophoblast cells on the outside of the chorionic cavity and covering the amniotic membrane
Term
extraembryonic visceral mesoderm
Definition
covers the primary yolk sac
Term
chorion
Definition
outer wall of the choronic cavity. consists of extraembryonic somatic mesoderm covered by cytotrophoblast cells, and outside this is the syncytiotrophoblast cells embedded in the uterus. will later go on to form the placenta.
Term
connective stalk
Definition
inside the chorionic cavity are the amnion and the embryonic disc covered by extraembryonic somatic mesoderm. these are connected to the chorion by this structure which is made up of a thick band of extraembryonic somatic mesoderm. it will eventually develop blood vessels and become the umbilicus.
Term
secondary yolk sac
Definition
attached to the embryonic disk and covered by extraembryonic visceral mesoderm. as the chorionic cavity enlarges, a portion of this pinches off leaving a much smaller one.
Term
end of second week
Definition
when the pregnancy can be detected. the large chorionic cavity can be observed by an ultrasound.hu
Term
human chorionic gonadotropic (hCG)
Definition
hormone produced by syncytiotrophoblasts. it is taken up by the mother's blood and can be detected in blood and urine 2 weeks after conception.
Term
1 mm
Definition
size of embryo at 2 weeks
Term
gastrulation
Definition
the most important developmental event. the process by which the embryo develops from a bilaminar disc into a trilaminar disc. cells at one end of the epiblast divide and migrate to the midline. they form a ridge of cells that buckles inward to form a groove on the surface of the epiblast. migrating cells move toward midline and flow down through the groove toward the hypoblast.
Term
primitive groove
Definition
where the migrating epiblasts move to the midline and move down into it. its located at the center on the surface of the epiblast.
Term
primitive pit
Definition
at the front end of the primitive groove; where the groove is enlarged
Term
primitive node
Definition
the tissue ridge around the primitive pit that is higher
Term
primitive streak
Definition
the primitive groove, primitive pit, and primitive node together are called this
Term
developmental fate
Definition
established during gastrulation. as the cells differentiate, they lose the ability to form a variety of cell types, the range of cells and tissues they can now become is more limited
Term
throughout the 3rd week and tapers off late in the 4th week
Definition
time frame of gastrulation. the end is marked by the disappearance of the primitive streak.
Term
errors in gastrulation
Definition
almost always lethal, causing fetal or neonatal death due to severe malformation
Term
sacrococcygeal teratoma
Definition
the primitive streak persists. this is a solid or fluid filled tumor at the site of the primitive streak. seen most often in newborn females.
Term
germ layers
Definition
the three distinct layers of the trilaminar embryo. endoderm, mesoderm, ectoderm.
Term
endoderm
Definition
the first cells through the primitive groove and replace the hypoblast
Term
mesoderm
Definition
second cells migrate through the primitive streak to form a layer between the endoderm and the epiblast
Term
ectoderm
Definition
cells remaining in the epiblast after migration. give rise to the skin, nervous system, neural crest tissue, and many structures of the head and face
Term
precordal plate or oropharyngeal membrane
Definition
at the cranial end, there is a small circular region where ectoderm is directly adherent with the endoderm. this region will later become the mouth.
Term
cloacal membrane
Definition
at the caudal end, there is a small circular area of adherent ectoderm and endoderm. this will later become the anus.
Term
blastocyst stage
Definition
marks the first indication of body axis. this identifies the dorsal-ventral axis of the embryo. dorsal has the embryoblast, ventral has the blastocoel
Term
formation of the primitive streak in the bilaminar disk
Definition
indicates the cranial-caudal axis
Term
notochordal plate
Definition
some of the mesoderm cells directly under the primitive node intercalate (mix with) the endoderm layer and these cells begin to form a cord in the midline in the endoderm layer. the cells grow cranially and form this structure on the ventral surface of the trilaminar disk
Term
notochord
Definition
cells proliferate along the notochordal plate and infolds into a tube. this becomes detached from the endoderm during infolding leaving a continuous layer of endoderm. it induces surrounding tissue to differentiate
Term
neural plate
Definition
notochord causes the overlying ectoderm to differentiate into this. it is a thickening of the ectoderm that will become the nervous system.
Term
paraxial mesoderm
Definition
closes to the notochord
Term
intermediate mesoderm
Definition
further from the notochord
Term
lateral mesoderm
Definition
furthest from the notochord and continuous with the extraembryonic mesoderm
Term
nucleus pulpossus of intervertebral disks
Definition
what the notochord becomes later in development
Term
cardiogenic area
Definition
cluster of mesoderm cranial to the prechordal plate which will become the future heart
Term
neurulation
Definition
formation of the nervous system
Term
neural plate
Definition
by the middle of the 3rd week, the notochord is growing cranially and has induced the overlying ectoderm to differentiate into neuroectoderm which is thicker
Term
process of neurulation
Definition
cells at the lateral edge of hte neural plate proliferate, this causes the lateral edges of the neural plate to elevate into neural folds, the neural folds bend toward each other at the midline, the neural folds fuse together forming a hollow neural tube running the length of the embryo, the neural tube detaches and a continuoys layer of ectoderm grows to cover the tube
Term
neuropores
Definition
fusion of the neural plates begins in the cervical region, moving cranial and caudally like a zipper to form the nerual tube. the neural tube is open to the amniotic cavity at both ends. the cranial end closes around day 25. the caudal end closes around day 28. what are these openings called?
Term
brain
Definition
the cranial neural tube expands to form this
Term
spinal cord
Definition
the caudal portion of the neural tube becomes this
Term
ventricular system
Definition
the lumen of the cranial neural tube will become this
Term
central canal
Definition
the lumen of the caudal tube forms this
Term
anencephaly
Definition
where the cranial tube does not close and the underlying nervous tissue is only partially formed and is exposed
Term
spina bifida
Definition
when the spinal canal does not close and the underlying nervous tissue is only partially formed and is exposed
Term
spina bifida occulta
Definition
incomplete closure of the spinal cord where there is no visible lesion but a defect in vertebral arch formation can be seen on radiographs
Term
neural crest
Definition
originates in the ectoderm along the lateral edge of the neural plate. forms in the elevating neural fold. as the neural fold elevates, these cells proliferate and move into the mesoderm forming a flattened cluster of cells in between the neural tube and overlying ectoderm. it then separates and moves to lie laterally on either side of the neural tube before migrating throughout the body
Term
intraembryonic coelom or body cavity
Definition
lateral mesoderm splits into two layers, both of which are continuous with the extraembryonic mesoderm. the space between these layers is called what?
Term
somites
Definition
paraxial mesoderm forms this
Term
structures associated with the urogenital tract
Definition
intermediate mesoderm forms this
Term
parietal or somatic mesoderm
Definition
one of the layers that splits from lateral plate mesoderm. it forms the dermis of the back, abdomical wall and limbs, and the serosal linings of the body cavities
Term
visceral or splanchnic mesoderm
Definition
one of the layers that splits from lateral plate mesoderm. it is continuous with extraembryonic mesoderm covering the yolk sac. it forms the muscular layers of the gut, blood vessels, and the serosal covering on each organ
Term
somites
Definition
paired blocks of paraxial mesoderm form in a segmented manner on either side of the developing neural tube. form from cranial to caudal, staring on day 20 (end of 3rd week) and continuing to the end of the 5th week. there are 42-44 pairs. so regular that it can be used to age the embryo. caused by cyclic expression of notch, WNT, and FGF families. this mesoderm will later form much of the skeleton, body wall, and limbs. each one forms an association of nerve, muscle, and skin that remain linked throughout life
Term
sclerotome
Definition
originates from cells in the ventromedial portion of the somite. will become the vertebra and ribs
Term
dermatome
Definition
originates from the cells in the lateral portion of the somite. will form the dermis of the back and limbs
Term
myotome
Definition
originates from cells dorsomedial and ventrolateral to the dermatome. these cells migrate under the dermatome and join in a single layer. will form the muscles of the back and limbs and body wall
Term
Folding of the Embryo
Definition
the basic human structure is a hollow tubular form. development of the embryo from a flat disk into a hollow tube requires a shape change. happens in both the cranial-caudal and the lateral directions. results from unequal proliferation of cells on the upper surface of the embryonic disk. the upper layer grows faster which bends the embryo towards the lower surface of the disk. begins late in the 3rd week and continues throughout the 4th week
Term
head and tail folds
Definition
two sharp folds form, one at the cranial end and the other at the caudal end. they result mainly from the elongation and growth of the nervous system in the craniocaudal direction
Term
cardiogenic region
Definition
folding in the head region causes this region to move from a cranial position to a caudal position relative to the oropharyengeal membrane (mouth) and ventral to the foregut
Term
foregut
Definition
folding creates this. as the cranial disc folds under, a pouch is created lined with endoderm. the pouch ends blindly with the oropharyngeal membrane. this membrane will eventually break down to form the mouth opening.
Term
tail region
Definition
folding in this region causes the primitive strek which was cranial to the cloacal membrane (anus) to become caudal. if the primitive streak does not regress, remnants of the streak may become a sacrococcygial teratoma and will be located posterior to the anus
Term
hindgut
Definition
folding creates this. an endodermal lined pouch is created in the caudal embryo terminating with the cloacal membrane which will later break down to form the anus and openings to the reproductive and urinary tracts
Term
allantois
Definition
an early fetal membrane projecting into the connecting stalk, becomes incorporated into the embryo proper. it now comes off the newly formed hindgut and will later form part of the urinary system.
Term
lateral folds
Definition
result from frapid growth of the somites and vertebra. will later become the abdominal walls. folding causes the opening into the yolk sac to decrease in size forming an amnion covered stalk that will later develop into the umbilical cord
Term
endcardial tubes
Definition
the early heart develops in the 3rd week from these in the cardiogenic region
Term
primordial heart
Definition
late in the 3rd week, endocardial tubes develop into this. it joins with newly formed blood vessels to create the primordial cardiovascular system.
Term
4th week (day 21-22)
Definition
blood begins to circulate and the heart beat is visible by ultrasound.
Term
cariovascular system
Definition
first organ system to become functional in the embryo
Term
vasculogenesis
Definition
the formatio of new vessels by the aggregation of angioblasts into clusters called blood islands. cavities appear in the blood islands. the angioblasts flatten and diffeentiate into endothelial cells which line the new vessel.
Term
angioblasts
Definition
vessel forming cells
Term
blood islands
Definition
clusters of angioblasts. they coalesce to form the major blood vessels
Term
angiogenesis
Definition
new vessels sprout off preexisting vessels. this allows the cardiovascular system to expand as the embryo grows.
Term
Hematopoeisis
Definition
the formation of blood cells, begins in the 3rd week and continues throughout life. blood cells first develop from endothelial cells in blood islands of the yolk sack
Term
sites of hematopoeisis
Definition
yolk sac, liver, thymus and spleen, bone marrow
Term
fetal erythrocytes
Definition
formed from different progenitor cells than in the adult
Term
embryonic erythrocytes
Definition
hemoglobin weird letter 2, epsilon 2
Term
fetal erythrocytes
Definition
hemoglobin alpha 2 gamma 2
Term
adult erythrocytes
Definition
hemoglobin alpha 2 beta 2
Term
body cavities
Definition
at the beginning of the 4th week, the lateral mesoderm separates into parietal and visceral mesoderm layers forming the intraembryonic colelom between these two layers
Term
intraembryonic coelomic space
Definition
formed between the parietal and visceral mesoderm. forms a U shape around the sides and head of the embryo disk. open and continuous with the extraembryonic coelom.
Term
body wall
Definition
as the embryo folds laterally, the edges of the embryonic disk composed to parietal (somatic) mesoderm and ectoderm are brought together to form this
Term
coelomic space
Definition
the intraembryonic coelom is now isolated from the extra embryonic coelomic space by the growing body wall. fusion of hte body all at the ventral midline encloses this space within the embryo.
Term
parietal (somatic) mesoderm
Definition
forms the body wall and the thin membranous lining of the future body cavity called the serosa
Term
visceral mesoderm layer
Definition
covers the foregut and hindgut tubes as they form
Term
midgut
Definition
open into the yolk sac. with time the yolk sac decreases in size and is incorporated into this. it is now suspended in the coelomic cavity covered entirely by visceral mesoderm.
Term
serosal layer
Definition
visceral mesoderm forms it. it covers the viscera, the mesenteries, and the muscles and connective tissue of the gut.
Term
pericardial cavity
Definition
embryo folding in the cranial region causes the base of the original U shaped intraembryonic coelom to fold under the two arms of hte U, forming this.
Term
pleural cavities
Definition
the proximal portion of the arms, now directed dorsocaudally, will become this.
Term
peritoneal cavity
Definition
the distal portions of the arms are brought together on the ventral side of the embryo as the body wall folds forming this.
Term
11th week
Definition
when the intraembryonic coelom is no longer open to the extraembryonic coelom
Term
pleuropericardial fold
Definition
a ridge of tissue that forms on the lateral wall of each peritoneal cavity between the heart and developing lungs. they grow medially to separate the two pleural cavities from the pericardial cavity.
Term
fibrous pericardium
Definition
the pleuropericardial folds form this. it is the outer layer of the pericardial cavity surrounding the heart.
Term
primordial mediastinum
Definition
by the 7th week,the pleuropericardial folds fuse in the midline with undifferentiated mesoderm around the esophagus in this
Term
septum transversum
Definition
a mesoderm plate lying cranial to the cardiogenic region before embryo folding, and located just caudal to the heart after folding. it grows from the ventral body wall dorsally forming the central tendon of the diaphragm as it separates the pericardial and peritoneal cavities.
Term
second division of the coelomic space
Definition
created from the pleuroperitoneal fold and the septum transversume
Term
diaphragm
Definition
the pleuroperitoneal membranes join with the septum transversume to form this structure which separates the pleural and peritoneal cavities
Term
crura of the diaphragm
Definition
myoblasts grow into the dorsal mesentery to make muscle ingrowths from the body wall which contribute to the periphery of the diaphragm
Term
phrenic nerve
Definition
myoblasts and associated nerve fibers (3-5th spinal nerves) from the 3-5th cervical somites invade the septum forming this.
Term
cervical nerves
Definition
as the embryo grows, the diaphragm assumes a thoracic position but still is innervated by these. the periphery of the diaphragm is innervated by thoracic nerves which serve the muscle fibers originating from the body wall after the diaphragm relocates in the thoracic region.
Term
congenital diaphragmatic hernia
Definition
occurs when one of the pleuroperitoneal folds fails to form or fuse with the other components of the diaphragm. occurs predominatly on the left side. the intestines, stomach, and even liver may be found in the thoracic cavity, limiting fetal lung development. infants often present with respiratory distress due to the comprimised lung
Term
ectopia cordis
Definition
a defect in closure of the thoracic cavity. the heart is located outside the body wall.
Term
gastroschisis
Definition
a defect in the abdominal cavity closure where loops of intestine and sometimes other organs are located outside the body free in the amniotic cavity. the gut is usually to the right of the umbilicus. it is increasing in prevalence in younger mothers. the intestinal loops are not covered by the amnion, they are free in the amniotic cavity
Term
omphalocele
Definition
in normal development, intestinal growth outpaces growth of the abdominal cavity and the displaced intestinal loops are held for a number of weeks within the umbilical cord. as the abdominal cavity explands, the intestines return to the abdominal cavity. this defect results if the intestines fail to move back out of hte umbilical cord. the intestines are both covered by amnion and are within the umbilical cord.
Term
week 1
Definition
preimplantation
Term
week 2
Definition
bilaminar disk
Term
week 3
Definition
trilaminar disk
Term
3rd-8th week
Definition
embryonic period
Term
Embryonic (or Fertilization) Age
Definition
time measured from fertilization and is counted in weeks or days
Term
gestational age
Definition
estimates embryonic age based on the woman's last menstrual period. counting begins before fertilization
Term
carnegie stages
Definition
uses standardized morphological features that can be observed and used to accurately stage and compare developmental progression. based on clearly observable or measurable physical features
Term
4th week
Definition
embryo folds. body cavities and GI system forms. cranial and caudal neuropores close, the brain begins to develop and enlarge. pharyngeal arches form. heart is prominent over the ventral aspect of the embryo and pumps blood. limb bunds form, upper before lower. otic pits which will become the ears form. lens placodes form marking the future eye.
Term
pharyngeal arches
Definition
paired structures in the head/neck region that are similar to somites in function. they are composed mainly of neural crest and will form much of the face and neck.
Term
5th week
Definition
head enlarges due to rapid development. face develops from facial prominences. nasoplacodes form and develope into a nasal pit. first pharyngeal arch has divided into the maxillary and mandibular prominences. germ cells migrate to the future gonad. kidney begins to form. lungs begin to develop as outgrowths from the foregut
Term
6th week
Definition
head continues to enlarge rapidly and is larger than the trunk. upper lip and nose form. upper limbs begin to regionalize and develop handplates with digital rays. lower limbs develop footplates. the developing intestines loop into the extraembryonic coelom within the umbillical cord until the 10tg week
Term
7th week
Definition
ossification begins in the long bones of the limbs. trunk and neck straighten. eyelids begin to form. abdomen enlarges due to growth of liver. abdominal surface now blends in with the cardiac prominence giving the body wall a more continuous silhouette. the yolk sac regresses to a small omphaloenteric duct
Term
8th week
Definition
fingers and toes are visible. caudal eminence is a tail like structure diseappears by the 8th week. the head is still disproportionally large but the trunk and limbs undergo rapid growth in this period. neck is established. eyelids fuse. ears develop. external genitalia are present but not differentiated sufficiently to determine gender. kidney begins to function late in this week.
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