Term
| What are the three trisomies that involve autosomes? |
|
Definition
Trisomy:
13 Patau
18 Edwards
21 Downs |
|
|
Term
| What is Klinefelter's Syndrome? |
|
Definition
|
|
Term
| What is Turner's Syndrome? |
|
Definition
|
|
Term
| Prader-Willi and Angelman Syndrome? |
|
Definition
Deletion on chromosome 15.
Prader Willi is paternal
Angelman is maternal |
|
|
Term
| What is the result of fertilization using cells that have undergone balanced recipricol translocation? |
|
Definition
| Depends: could be normal or lethal. If all the necessary genetic material is there then no problem (translocated or not) |
|
|
Term
| What is a Robertsonian translocation? |
|
Definition
Translocation of acrocentric (giant q arms and tiny p arms) chromosomes resulting in one ultra mega chromosome.
Down-syndrome Robertsonian is 21 to 14 |
|
|
Term
|
Definition
Martin-Bell.
CGG repeats in X chromosome |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Testis determining factor |
|
|
Term
|
Definition
| responsible for ovary. X chromosome linked |
|
|
Term
| What is an Sry gene translocation, what is the result? |
|
Definition
males with ambiguous genetalia.
46 XXY |
|
|
Term
|
Definition
| Spermatids -> Spermatozoon |
|
|
Term
| What forms the blood testis barrier? |
|
Definition
|
|
Term
| Hormones of Sertoli Cells? |
|
Definition
Receive: FSH
Release:
Estrogen
Androgen Binding Proteins
Inhibin and Mullerian inhibiting factor |
|
|
Term
|
Definition
Receive LH
Release Testosterone |
|
|
Term
| Root causes of Androgen insufficiency? |
|
Definition
| Lack of FSH receptors at Sertoli or lack of ABP production |
|
|
Term
| Effect of estrogen on other menstrual hormones? |
|
Definition
inhibition of FSH.
Promotion of LH. |
|
|
Term
| Function of the Granulosa cells? |
|
Definition
Initially have FSH receptors.
-produce aromatase to convert testosterone to estrogen
Develope LH receptors
-produce progesterone |
|
|
Term
|
Definition
|
|
Term
| 3 forms of polyspermy block? |
|
Definition
|
|
Term
| Partial Hydatidiform Mole? |
|
Definition
|
|
Term
| Complete Hydatidiform Mole? Signs?Search |
|
Definition
Normal ploidy but no maternal chromosome.
Spotty bleeding and high HCG levels.
can produce choriocarcinoma |
|
|
Term
| Secondary follicle is indicated by what? |
|
Definition
|
|
Term
| blastocyte is indicated by what? |
|
Definition
| Presence of blastocoele. Also the stage from which cells go from totipotent (morula) to pluripotent |
|
|
Term
| The terms involved with x chromosome inactivation? |
|
Definition
XIC: X inactivation center
XIST: X inactive specific transcript
Barr Body: inactive X chromosome |
|
|
Term
|
Definition
|
|
Term
| What has to happen for the blastocyte to implant? |
|
Definition
| zona pellucida has to break down |
|
|
Term
| Zones of ectopic pregnancy? |
|
Definition
Fimbrial
Ampullary (most common)
Ishmic
Interstitial
Cervical
Abdominal or intestinal |
|
|
Term
|
Definition
| two fertilized eggs (superfecundation), early solvation of zona pellucida, mixing of cell masses |
|
|
Term
| Blastocyte sees the formation of what? |
|
Definition
| Blastocoele and unilaminar disc (inner cell mass) |
|
|
Term
| What signal decidual cells and what is the function of decidual cells? |
|
Definition
Signalling from synciotrophoblast
fibroblasts-> decidual cells
function: protective scar tissue and production of prolactin |
|
|
Term
|
Definition
Decidua capsillaris: suround fetus
Decidua basalis: outside of synciotrophoblasts
Decidua Parietalis: Outside of decidua capsilaris (empty space between)
Decidua capsillaris and decidua parietalis fuse together as the cavity is walled off |
|
|
Term
| When does the extraembryonic reticulum form? |
|
Definition
| after the formation of heuser's membrane. lines the space between heusers and the trophoblasts |
|
|
Term
| name of the lining of extraembryonic mesoderm on either side of the extraembryonic reticulum? |
|
Definition
yolk side (visceral mesoderm)
inside of cytotrophoblast (visceral mesoderm) |
|
|
Term
| Vitelline blood vessels form where? |
|
Definition
| extraembryonic mesoderm. Yolk sac is signalling center |
|
|
Term
| Factor that keeps corpus luteum alive? |
|
Definition
| HCG, secreted by synciotrophoblasts |
|
|
Term
|
Definition
Signalling center for umbilical vessels.
eventually degenerates and becomes the urachus.
if tubular structure does not scar over it can become a fistula |
|
|
Term
| What is Merkels diverticulum? |
|
Definition
| Remnant of yolk sac on the ileum |
|
|
Term
| What are chorionic villus? |
|
Definition
| invagination of extraembryonic mesoderm to increase surface area with maternal blood. Eventually become vascularized by umblical blood vessels signalled by allantois |
|
|
Term
| What do umbilical veins carry? what do umbilical arteries carry? |
|
Definition
Veins carry oxygenated blood
arteries carry waste |
|
|
Term
| What can result in stunting with fraternal twins? |
|
Definition
| Fusion of placental regions during implantation |
|
|
Term
| What is the placental, amniotic, and chorionic counts for: zygote split? |
|
Definition
2 placentas
2 amniotic sacs
2 chorionic sacs |
|
|
Term
| What is the placental, amniotic, and chorionic counts for: inner cell mass split? |
|
Definition
1 placenta
2 amniotic sacs
1 chorionic sac |
|
|
Term
| What is the placental, amniotic, and chorionic counts for: Bilaminar disc split? |
|
Definition
1 placenta
1 amniotic sac
1 chorionic sac |
|
|
Term
| What are the implantation problems? |
|
Definition
Placenta accreta: myometrium
Placenta percreta: perimetrium
Placenta previa: blockage of internal os of cervix |
|
|
Term
| Ectoderm gives rise to what type of tissue? |
|
Definition
Epithelium: surface epithelium
and Nerve |
|
|
Term
| Endoderm gives rise to what type of tissue? |
|
Definition
Epithelium:
-GI tract
-(organs that bud off of ET)
Respiratory System
Liver
Pancreas
Terminal Part of Urogential System
Pharyngeal Derivatives |
|
|
Term
| Mesoderm gives rise to what type of tissue? |
|
Definition
Epithelium:
Body cavities
Cardiovascular system
Reproductive System
Urinary System
Muscle, and connective tissue |
|
|
Term
| Notocord goes through what? |
|
Definition
| Primitive Pit (top of primitive streak) |
|
|
Term
| What is the primitive groove? |
|
Definition
| area in primitive streak from which cells migrate to form germ layers |
|
|
Term
| What is the primitive node? |
|
Definition
| mound of cells at cranial end of primitive groove |
|
|
Term
| what is the primivtive pit? |
|
Definition
| depression inside of the primitive node from which the cells of the notocord migrate down |
|
|
Term
| Paraxial mesoderm differentiates into what? |
|
Definition
|
|
Term
| What does intermediate mesoderm give rise too? |
|
Definition
| reproductive and urinary systems |
|
|
Term
| Somites form into what 3 distinct regions? |
|
Definition
| Scleratome, Myotome, and Dermatome |
|
|
Term
| Somitomeres can form _____. How many pairs? How many left over? |
|
Definition
| out of 44 pairs 37 are Somites |
|
|
Term
| What happens to the somitomeres that do not differentiate into somites? |
|
Definition
| Become striated muscle of the face, jaw, and throat |
|
|
Term
| What is the caudal eminence? |
|
Definition
| Secondary neurulation that comes from the primitive streak. This is the formation of the lower neurotube portion which Will eventually become the cauda equina. |
|
|
Term
| What do neural crest cells give rise too? |
|
Definition
Ganglia (sympathetic, parasympathetic, and dorsal root)
Pigment cells (melanocytes)
Schwann cells
Dentin of teeth (via odontoblasts) |
|
|
Term
| What are the ependymal cells? |
|
Definition
| line the ventricles of the brain. produce CSF |
|
|
Term
| What is the Mantle layer? |
|
Definition
| mantle layer is the presumptive gray matter |
|
|
Term
| What is the marginal layer? |
|
Definition
| Presumptive white matter of brain |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What does encephalo mean? |
|
Definition
|
|
Term
|
Definition
| membranous sac containing CSF that is continuous with the skin (dura arachnoid) |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| external occipital protuberance of skull |
|
|
Term
|
Definition
|
|
Term
| What are the causes of neural tube defects? |
|
Definition
Insulin
Retinoic acid
High plasma glucose
Valprioic acid (epilepsy drug)
Maternal diabetes
Hyperthermia |
|
|
Term
| What is the pathway of skeletal muscle cells? |
|
Definition
| differentiate into myoblasts within myotomes then travel to various places |
|
|
Term
| What are the signalling molecules for muscle development? |
|
Definition
Wnt: Dorsalizing
BMP-4: ventral-lateral signal
Shh: |
|
|
Term
| What are the transcription factors involved with muscle development? |
|
Definition
|
|
Term
| What is the Gene involved with Muscle development? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What does ectro or a mean? |
|
Definition
|
|
Term
| what does brachy or phoco mean? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the factors involved with congenital anomalies of the limbs? |
|
Definition
Hyperthermia
Retinoic Acid
Aspirin
Thalidomide |
|
|
Term
| What genes stimulate limb development? |
|
Definition
|
|
Term
| What is the organizing center for proximal-distal growth of limb? |
|
Definition
| AER: Apical Ectodermal Ridge |
|
|
Term
| What factor is important for proximal distal limb development? |
|
Definition
| Fibroblast growth factor and SHH |
|
|
Term
| What factor is important for proximal distal limb development? |
|
Definition
| Fibroblast growth factor and SHH |
|
|
Term
| What is the organizing center for anteroposterior growth of the limb? |
|
Definition
| Zone of polarizing activity (ZPA) |
|
|
Term
| What transcription factors are in play for cranial to caudal limb development? |
|
Definition
Gli-3 (downregulating) and Gli-1 (upregulating)
the signal molecule is SHH |
|
|
Term
| What are the factors involved in dorsal and ventral development of muscle masses? |
|
Definition
Signalling molecules: Wnt and En-1 (Engrailed)
Transcription factor: Lmx-1 |
|
|
Term
| What are the sources of dermis for the: dorsal trunk, ventral trunk and limbs, cranial skin and anterior neck? |
|
Definition
Dorsal trunk: dermatome
Ventral trunk and limbs: somatic LP meso
Cranial Skin and neck: neural crest cells |
|
|
Term
| What disease is related to malfunctioning fibroblasts and a lack of collagen? |
|
Definition
|
|
Term
| What disease is associated with vascular malformations (benign tumors of endothelial cells)? |
|
Definition
|
|
Term
|
Definition
Mixture of oil and periderm, protects fetus.
If periderm remains: collodion baby |
|
|
Term
| What are the signalling molecule of Epidermal Differentiation? |
|
Definition
TGF alpha: stimulates proliferation
TGF beta: decreases proliferation
EGF |
|
|
Term
|
Definition
| Afferent nerves. Neural Crest |
|
|
Term
| What are Langerhan cells? |
|
Definition
| Cell mediated immunity in skin. Derived from Sclerotome and Somatic lateral plate mesoderm |
|
|
Term
| How is melanin synthesized in melanocytes? |
|
Definition
| Tyrosine is catalyzed via Tyrosinase in the melanocyte |
|
|
Term
| What is the disease caused by a mutation in laminum-5? |
|
Definition
| Junctional Epidermolysis Bullosa (JEB) |
|
|
Term
|
Definition
|
|
Term
| What are the diseases associated with Ectodermal dysplasia? |
|
Definition
Alopecia
Hypodronic Ectoderm Dysplasia: sweat glands |
|
|
Term
| What are diseases associated with Ectoderm Hyperplasia? |
|
Definition
Hypertrichosis: hair
HyperPigmentation: Pigment |
|
|
Term
|
Definition
absence of nail development.
outer epithelial layer of nails called eponychium |
|
|
Term
|
Definition
| Milk secreted by neonates |
|
|
Term
|
Definition
|
|
Term
|
Definition
| milk-let down (contract muscle of ducts) |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| excessive mammary gland development in males |
|
|
Term
| What are the sets of teeth? |
|
Definition
20 primary (deciduous teeth)
32 secondary (permanent) |
|
|
Term
| In terms of teeth, what is derived from ectoderm? |
|
Definition
| Dental lamina and enamel organ (Ameloblasts) |
|
|
Term
| In terms of teeth, what is derived from neural crest cells? |
|
Definition
Dental papillae: odontoblasts -> dentin and dental pulp
Dental sacs: cementoblasts: cementum and peridontal ligaments |
|
|
Term
| From what are the myoepithelial cells of mammary glands derived? |
|
Definition
| mesenchyme of somatic lateral plate mesoderm |
|
|
Term
|
Definition
| failure in production of enamel, malfunctioning ameloblasts (ectoderm) |
|
|
Term
| What is dentinogenesis imperfecta? |
|
Definition
| failure of production of dentin, malfunction of odontoblasts |
|
|
Term
| Vitamin A deficiency does what to teeth? |
|
Definition
|
|
Term
| What does vitamin D deficiency do to teeth? |
|
Definition
| enamel and dentin hypoplasia |
|
|
Term
| What do blue or black teeth in a fetus mean? |
|
Definition
| hemolytic disease or erythroblastosis fetalis |
|
|
Term
| Tetracycline has what effect on fetal teeth? |
|
Definition
| brownish-yellow discoloration of teeth |
|
|
Term
| What are the signalling molecules and genes of Osteogenesis? |
|
Definition
Molecules
TGF-beta
BMP
Genes
Hox |
|
|
Term
| What bones of the neurocranium and viscerocranium are not derived from neural crest cells? |
|
Definition
| basilar part of occipital bone (scleratome) |
|
|
Term
| What bone development is characterized by a membranous sheath developing? |
|
Definition
| Intramembranous: mostly bones of the head and neck and Clavicle |
|
|
Term
| What bones development is characterized by chondrocytes developed a cartilage matrix, or precursor? |
|
Definition
Endochondrial (intracartilaginous):
all other bones of the body except some of head and neck (but temporal and base of occipital still endochondrial) and clavicles |
|
|
Term
| What is Klippel-Feil syndrome? |
|
Definition
| Problem in regulation of Hox genes, wrong kind of vertebrae |
|
|
Term
| What is congenital spondylolisthesis? |
|
Definition
| Failure of pedicle to connect to transverse process (articular process does not form), results in possible anterior displacement and nerve pinching |
|
|
Term
| What is cleidocranial dysplasia? |
|
Definition
|
|
Term
| What are the death domains? |
|
Definition
Tumor necrosis factor receptor gene superfamily (trimeric molecules).
Receptors on outside of cell membrane (example CD955 [Fas, Apo1]) |
|
|
Term
| In apoptosis, what is FADD? |
|
Definition
| Adapter protein that binds to death domain inside cell (Fas-associated death domain) |
|
|
Term
| In membrane receptor pathway of apoptosis, what recruits the pro-caspases to the FADD (fas-associated death domain)? |
|
Definition
| Death effector domain (DED, CARD, caspase recruitment domain) |
|
|
Term
| Caspases cleave at which residue? |
|
Definition
|
|
Term
| What are the effector caspases? |
|
Definition
|
|
Term
| What are the initiator caspases? |
|
Definition
|
|
Term
| What does cytochrome c do once it exits the mitochondria? |
|
Definition
1. Binds with Apaf-1 (Apoptotic protease activating factor)
2. Attracts initiator caspase
3. Attracts affector caspase |
|
|
Term
| In the mitochondrial initiated pathway. What is the apoptosome? |
|
Definition
| Complex of Cytochrome C, Initator and effector Caspase, and Apaf-1 (apoptotic protease activating factor) |
|
|
Term
| What are the BCL-2 pro-apoptotic factors? |
|
Definition
| Bax, Bim, Bad, Bok, Bak, Bid, Puma, Noxa |
|
|
Term
| What are the BCL-2 family anti-apoptotic factors? |
|
Definition
| Bcl-2, Bcl-X, Mcl-1, AL/Bfl-1 |
|
|
Term
| What are the non-bcl-2 pro-apoptotic factors? |
|
Definition
SMAC/Diablo: bind to inhibitors of affector caspases
AIF (apoptosis inducing factor): activater of affector pro-caspase |
|
|
Term
| What are the anti-apoptotic factors that are not of the BCL-2 family? |
|
Definition
| IAPS (inhibitors of apoptosis): bind to caspases [inhibited by SMAC/Diablo] |
|
|
Term
| What are the genes involved with the cranial-caudal segmentation of the body? |
|
Definition
|
|
Term
| What are the genes involved with developement of sense organs, neurons, and epithelial-mesenchymal transitions? |
|
Definition
|
|
Term
| What are the geners involved in lens, cartilage, and genital ridge formation? |
|
Definition
|
|
Term
| What genes prevent cell differentiation and maintain totipotency? |
|
Definition
|
|
Term
| What gene, if inactivated, will result in a missing body part? |
|
Definition
|
|
Term
| What gene is responsible for fore vs hind limbs? Causes the induction of mesodermal germ layers |
|
Definition
|
|
Term
| What gene is responsible for out growth structures such as appendages? Also involved in jaw and inner ear |
|
Definition
|
|
Term
| What infectious agents can be passed to the infant via the mother? |
|
Definition
HIV
Syphillis
Cytomegalovirus: mono
Rubella
Varicella-zoster
Toxoplasma gondil |
|
|
Term
| What does the Fetus pass to the mom? |
|
Definition
CO2
Billirubin
Urea/Uric Acid
Water |
|
|
Term
|
Definition
| Vitamin A, Tobaccao, Cocaine, Alcohol, Anticoagulants, Anticonvulsants, Chemotherapeutic drugs |
|
|
Term
| What are the cranial nerves? |
|
Definition
Olfactory S
Optic S
Oculomotor M
Trochlear M
Trigeminal B
Abducens M
Facial B
Auditory S
Glossopharyngeal B
Vagus B
Spinal (Acessory) M
Hypoglossal M |
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|
