Lecture 2 Flashcards
Klinefelter Syndrome
Males that have an extra x in most of their cells, the more x’s the more severe, 1:500-1,000. Penetrance, women over 35 have a higher incidence
Klinefelters clinical appearance:
Gynecomastia (man boobs),max and mand prognathism (causes cross bits and malocclusion). Permanent crowns larger than usual. Inc pulmonary and autoimmune disorders, diabetes mellitus in 8%, high incidence of cleft palate.
Klinefelters clinical management:
Bolton discrepancy (tooth size ration wont accommodate a proper occlusal relationship) growth abnormalities, max and mand prognathism, Taurodontism (extension of pulp chamber below alveolar crest, failure of hertswig epithelial shift to invaginate at proper level, enlarged pulp chamber, apical displacement, no constriction at CEJ, caries control important (due to potential calcification and extra canals)
Turners Syndrome:
One normal x and the other missing/altered. 1:2,500 females. Webbed neck, low hairline on back of neck, lymphedema, early loss of ovarian function, 1/3-1/2 with heart defect. Short stature defect on SHOX gene (essential for skeletal development especially in arms and legs.
Clinical management of syndromic patients
Good understanding of the syndrome is important, congenital heart defects so consult with cardiologist, mental handicaps, need realistic goals for oral problems,
Cleavage
Subdivides zygote without increasing in size. Starting at 8 cell size, blastomere begins to flatten. Outer surface become convex and inner surfaces become more concave. Called compaction and involves changing the blastomere cytoskeleton.
Preimplantation genetic diagnosis (PGD)
Remove a blastomere and screen for aneuploidy or translocation with karyotype analysis. Done on old pts and high risk
Trophoblast
part of the cleaving embryo, peripheral outer cell mass, placenta and associated membranes
embryoblast
part of cleaving embryo, inner cell mass that gives rise to embryo proper
day 4
morula consist of 30 cells. Trophoblast has a sodium potassium ATPase pump that pumps in ions and water follows. Fills a large cavity called the blastocyst cavity
blastocyst
has the fluid filled cavity. The inner cell mass forms the embryonic pole and the other end is abembryonic pole.
Zona hatching
Blastocyst’s zona pellucida degenerates and replaced by a underlying layer of trophoblast cells called the cytotrophoblast
Syncytiotrophoblas
Trophoblast cells in contact with uterine wall lose cell membrane coalesce to form syncytium and implants into the uterine wall
Bilaminar embryonic disk
During the second week the embryoblast splits into epiblast (primary ectoderm) and hypoblast (primary endoderm)
Amniotic cavity
Appears day 8 as fluid collects between cells of epiblast and overlying trophoblast. A layer of epiblast cells expands toward the embryonic pole and differentiates into a thin membrane (amnion) separating the new cavity and from the cytotrophoblast. Remainder of epiblast and hypoblast now constitute a bilaminar disk which develops into embryo proper
Coagulation plug
Acellular material that seals the small hole where the blastocyst implanted.
Extraembryonic endoderm:
day 9 the hypoblast sends out a proliferation of cells that lines the cytotrophoblast. Completely surrounds the former blastocyst and is called the Heuser’s membrane
extra embryonic mesoderm
filling in between heusers membrane and the cytotrophoblast with loosely arranged cells
primary yolk sac
blastocyst cavity after heusers membrane is formed
cytotrophoblastic lacunae
day 11-13 anastamose with maternal capillaries and become filled with blood
extraembryonic coelom or chorionic cavity
12-13 days. extraembryonic mesoderm splits into two layers. seperates the embryo with its attached amnion and yolk sac from the outer wall of the blastocysts
endodermal lining of the definitive yolk sac
breaks up the primary yolk sac, happens on day 12, migrates over the inside of the extraembryonic mesoderm
major structure associated with the developing embryo throught eh 4th week
definitive yolk sac-primordial germ cells first identified in this wall
primitive streak
primitive groove, pit, and node. beginning of third week
gastrulation
cell migration, invagination and ingress. day 16 the epiblast cells near the primitive streak begin to proliferate, flatten, and lose their connections with each other. develop long flat foot like processes (pseudopodia) which allow them to migrate through primitive streak
definitive endoderm
invading epiblast cells replace the hypoblast- gives rise to gut and gut derivatives
intraembryonic mesoderm
invading epiblast cells form a middle layer. migrate laterally (somites= vertebral column, skeltal muscle, and dermis) and cranially