Genetics & Embryology

Learning Outcomes
Terms 1, 2 & 3

Department of Anatomy

Faculty of Medicine, University of Colombo

Structure and Functions of Chromosomes
1. Describe the organization of chromosomes.
2. Describe the following terms, with reference to the structure and organisation of a chromosome:
a. Chromatids
b. Short arm
c. Long arm
d. Centromere
e. Satellite stalk
f. Telomere
g. Metacentric
h. Submetacentric
i. Acrocentric
3. Describe in outline the procedure involved in chromosome culture and karyotyping.

Cell Division
1. Describe
a. Mitosis
b. Meiosis
2. List the special features of meiosis and state why they are important.
3. Describe problems associated with cell division - Non-dysjunction/Anaphase lag, Translocation

Gametogenesis
1. Describe spermatogenesis.
2. Describe oogenesis and state the changes in the genetic composition and the morphology of germ cells and the
timing of these changes.

Female Reproductive Cycle and Ovulation

1. Describe the changes that take place during the
a. Pituitary Gonadotrophin Cycle
b. Ovarian Follicular Cycle
c. Ovarian Hormone Cycle
d. Uterine Menstrual Cycle
2. Describe the conditions necessary for ovulation and how it can be prevented
3. Describe the source, action and regulation of secretion of:
a. GnRH
b. FSH
c. LH
d. Oestrogen
e. Progesterone
4. Describe the problems associated with fertilization and how that could lead to an abnormal chromosome
complement.

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Fertilisation, 1st Week of Development and Implantation
1. State the site of fertilisation.
2. List the mechanisms responsible for transport of spermatozoa to the site of fertilization.
3. Describe the main events associated with fertilization.
a. In Sperm:
i. Capacitation.
ii. Acrosomal Reaction.
b. In Ovum:
i. Cortical and zonal reactions.
ii. Resumption of the second meiotic division.
iii. Metabolic activation.
4. List the main results of fertilisation.
a. Restoration of the diploid number of chromosomes.
b. Determination of sex of the new individual.
c. Initiation of cleavage.
5. List some of the assisted reproductive techniques:
a. Artificial insemination
b. In-vitro Fertilisation and embryo transfer [IVF and ET]
c. Intracytoplasmic Sperm Injection [ICSI]
6. Describe the following with regard to the first week of development:
a. Cleavage.
b. Compaction. .
c. Morula and blastocyst stages.
d. Formation and fate of the inner and outer cell masses.
e. Hatching
7. Describe the following with regard to implantation.
a. Normal site of implantation.
b. Ectopic sites of implantation.

2nd Week of Development

1. Differentiation of the Embryoblast into an Epiblast and Hypoblast.
2. Differentiation of the Trophoblast into Cytotrophoblast and Syncytiotrophoblast.
3. Transformation of Blastocyst Cavity, first into the Primary yolk sac and then into a secondary yolk sac.
4. Formation of the Amniotic Cavity and the Chorionic Cavity.
5. Formation of the two layers of extraembryonic mesoderm.

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3rd Week of Development
1. Describe the following with regard to the third week of development
a. Formation of the trilaminar embryo.
b. Formation of the notochord.
c. Formation of the neural tube
d. Regional differentiation of the intraembryonic mesoderm.
e. Establishment of the blood circulation.
f. Formation of the intraembryonic coelom
g. Expansion of the amniotic cavity
2. Name the embryonic origin of the different organs of the body
3. Name four neural tube defects
a. Anencephaly
b. Spina bifida
c. Meningoencephalocoele
d. Meningomyelocoele
4. Describe how risk of occurrence/recurrence of neural tube defects can be reduced.

Development of the Placenta, Fetal Membranes and Multiple Gestations

1. Describe the following with regard to placentation
a. Formation of trophoblastic lacunae.
b. Establishment of the utero-placental circulation.
c. Formation and components of the Primary, Secondary and Tertiary Stem Villi.
2. Describe the formation of the amnion and the chorion.
3. Describe the following with regard to multiple births
a. Different types of multiple births and state their incidence.
b. Mechanisms by which Monozygotic and Dizygotic twins are produced.
c. Different types of conjoint twins.
d. Methods available for differentiating between monozygotic and dizygotic twins.

Chromosome Abnormalities
1. Define and describe the clinical features and the karyotypes of abnormalities in chromosome number.
a. Polyploidy
b. Aneuploidy
i. Monosomy
ii. Trisomy
iii. Mosaicism
2. Define non-dysjunction and describe how it contributes to aneuplodies.
3. Define, and describe the clinical features and the karyotypes of abnormalities in chromosome structure:
a. Translocations
i. Balanced

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 ii. Unbalanced
iii. Robertsonian Translocation
b. Inversions
c. Deletions
d. Duplications
e. Ring chromosomes
f. Isochromosomes

Genes
1. Describe the structure of DNA
2. Describe the organization of genes and define the terms:
a. Intron
b. Exon
3. Define and describe transcription and translation
4. Define and describe the following terms with regard to genetic changes at DNA level:
a. Polymorphisms
b. Mutations
c. Substitutions
i. Synonymous substitutions
ii. Nonsynonymous substitutions
d. Insertion
e. Deletion
f. Duplications
g. Single Nucleotide Polymorphisms (SNPs)
h. Deletions/Insertion Polymorphisms (DIPs)
i. Missense Mutations
j. Nonsense Mutations
k. Frameshift Mutations
l. Dynamic Mutations (Triple Repeats)
m. Copy Number Variants (CNV)
5. Describe the structure and function of mitochondrial DNA.

Patterns of Inheritance
1. Able to define and explain the terms:
a. Polymorphism
b. Mutation
c. Genotype
d. Phenotype
e. Homozygous
f. Heterozygous

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 g. Dominant Trait
h. Recessive Trait
i. Intermediate Trait
2. Familiar with pedigree drawing symbols and should be able to draw a pedigree using those symbols.
3. Define and describe the clinical features and give examples of:
a. Autosomal dominant inheritance
i. Incomplete penetrance
ii. Variable Expressivity
iii. Gonadal Mosaicism
a. Autosomal recessive inheritance
b. X-Linked dominant inheritance
c. X- Linked recessive inheritance
d. Y-Linked inheritance
e. Mitochondrial inheritance
f. Triplet Repeat Expansions
g. Anticipation
h. Imprinting
i. Contiguous Gene Syndrome
j. Uni-parental Disomy
k. Multifactorial or Polygenic Inheritance

Musculoskeletal System
1. Describe the bony derivatives of the sclerotome, somatic mesoderm of the body wall, and the neural crest.
2. Contrast development of the membranous versus the cartilaginous neurocranium.
3. Define the terms suture and fontanelle and describe their locations and functions.
4. Define craniosynostosis and its leading genetic cause.
5. Describe the basic processes of limb development and define apical ectodermal ridge, hyaline cartilage model, and
epiphyseal plate.
6. What genes control proxinodistal, anterior posterior growth, and bone patterning in the limbs?
7. Describe vertebral formation and determine the origin of the intersegmental arrangement of the vertebral column.
8. Describe the muscular derivatives of the epimeres and hypomeres.
9. Describe the origins of the innervation of the segmental musculature.

Formation of Body Cavities

1. Describe the processes of cephalocaudal and lateral folding of the embryonic disc and their significance with respect to
establishment of body form.
2. Describe the embryologic basis for gastroschisis versus omphalocele and ectopia cordis.
3. Describe the subdivisions of the intraembryonic mesoderm and the role this tissue plays in development of the
intraembryonic coelomic cavity.
4. Describe the role of the pleuropericardial folds in determining the pericardial and pleural cavities.
5. Describe the formation of the diaphragm and explain the origins of diaphragmatic hernias.

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Cardiovascular System
1. Explain the role of cephalocaudal and lateral embryonic folding in positioning of the heart tube.
2. Define the term cardiac loop and describe its formation.
3. Identify the bulbus cordis, conus cordis, and truncus arteriosus and name their derivatives.
4. Describe the contributions of the sinus venosus to atrial development.
5. Describe the processes involved in septation of the atria, ventricles, and truncus arteriosus, including the role of the
endocardial cushions.
6. Explain the embryologic origins of ventricular septal defects (VSD), atrial septal defects (ASD), and transposition defects of
the great vessels.
7. Know the derivatives of the third, fourth, and sixth aortic arches.
8. Understand that arteries shift to the left and veins to the right during development.
9. Describe the origin of the umbilical vein, the portal system, and the inferior vena cava.
10. Trace the patterns of pre- and postnatal blood flow and describe the changes that occur at birth.

Respiratory System and Digestive System (Mesenteries)

1. Define the terms respiratory distress syndrome and hyaline membrane disease.
2. Describe the factors involved in lung maturation, including the role of alveolar type I and II cells.
3. Describe the relationship of the cephalocaudal and lateral folding of the embryo to development of the foregut, midgut, and
hindgut regions.

Digestive System: Fore-, Mid-, and Hindgut

1. List the derivatives of the fore-, mid-, and hindgut regions and briefly describe their morphogenesis.
2. Describe the formation of the liver and its function during fetal life.
3. Describe the process of gut rotation and its role in producing retroperitoneal versus intraperitoneal structures.
4. Describe the vascular supply of the primitive gut tube. How does this arrangement compare to hat in the adult?
5. Define the term physiological umbilical herniation and the time and reasons for its occurrence.
6. Describe the embryologic origin of the following defects: congenital umbilical hernia, left-sided colon, Meckel's
diverticulum, gut stenosis, gastroschisis, and omphalocele.

Urinary System
1. Describe the role of the intermediate mesoderm in development of the urinary system.
2. Define the terms pronephros, mesonephros, and metanephros.
3. List the derivatives of the ureteric bud and the metanephric mesoderm.
4. Understand the importance of epithelial mesenchymal interactions in kidney developments.
5. Describe the embryologic origin of congenital cystic kidney, renal agenesis, double ureter, and horseshoe and pelvic
kidneys.
6. Describe the formation of the urinary bladder and the urogenital sinus.

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Genital System
1. Define the terms genital ridge and indifferent gonad and describe the changes that occur when the primordial germ cells
arrive carrying an XY chromosome complement.
2. Contrast the development of the mesonephric and paramesonephric duct systems and their derivatives in the male and
female.
3. Describe the formation of the vagina.
4. Contrast the fate of the genital tubercle, urethral folds, and genital swellings in the male and female.
5. Describe the process involving descent of the testes from the abdominal cavity into the scrotum and define a congenital
inguinal hernia.

Head and Neck

1. Define the terms pharyngeal arch, pouch, and cleft.
2. Know the derivatives of the first and second arches, the first cleft and pouch, and that the remaining pouches give
rise to the parenchyma of numerous glands.
3. List the nerves associated with each arch.
4. Define the term HOX code and what it means with respect to arch development.
5. Describe the origin of the tongue, including its nerve supply.
6. Describe the origin of the thyroid gland, how it assumes its final position in the adult, and the formation of
thyroglossal cysts.
7. Define the term facial prominences and describe their role in formation of the face.
8. Define the terms primary and secondary palate and explain the origins of clefts in these structures and the upper
lip.

Integumentary and Central Nervous System

1. Describe the origin of the epidermis and dermis.
2. Describe the establishment of the neural tube from the neural plate and segregation of the primary brain vesicles and their
subsequent subdivisions.
3. Describe the passageway for cerebral spinal fluid.
4. Define the terms mantle and marginal layers, and basal, alar, roof, and floor plates.
5. Describe the origin of neuroblasts and glial cells.
6. Define the terms spina bifida, anencephaly, rachischisis, meningocele, myelomeningocele, and meningoencephalocele.
7. Describe the origin of the cerebellum, the cerebral cortex, and hypophysis (pituitary).
8. Describe the origin of the sympathetic and parasympathetic nervous systems.

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