Chapter 1
Introduction to
Embryology
Textbook of
HUMAN EMBRYOLOGY
With Clinical Cases and 3D Illustrations
Author: Dr Yogesh Sontakke, JIPMER, Pondicherry
©CBS Publishers & Distributors Pvt Ltd, New Delhi
As per:
Competency based Undergraduate curriculum 1
• AN76.1 Describe the stages of human life
• AN76.2 Explain the terms- phylogeny, ontogeny,
trimester, viability
Medical Council of India, Competency based Undergraduate curriculum for the Indian Medical Graduate,
2018. Vol. 1; pg 1-80.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Basic terminology
• Embryology: Study of the formation and the development of an organism.
• Reproduction: Involves fusion of male and female gametes to produce
offspring → maintain species.
• Ontogeny: Study of complete life cycle of an organism.
• Phylogeny: Deals with evolutionary history and relationship among the
organisms.
• Ontogeny recapitulates phylogeny (Ernst Haeckel, 1866).
Developing human kidney: Pronephric kidney → mesonephric kidney
→ metanephric kidney.
• Humans are eutherian or placental mammals.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Basic terminology
• Development: Simple single cell → complex multicellular organism.
• Growth is a mere increase in the number and size of cells.
• Types of growth:
1. Multiplicative growth: increase in cell number by cell division.
2. Auxetic growth: increase in cell size.
3. Accretionary growth: increase in intracellular substances.
• Differentiation is the process of cell transformation to acquire specific character and
function.
• Totipotent cells: Form all differentiated cell types of an organism – e.g.: zygote, morula
• Pluripotent: Form all differentiated cell types of an organism except placenta – e.g.: inner
cell mass of blastocyst
• Gametogenesis: Process of formation of gametes (ovum and sperms) from germ cells.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Need of embryology
• 3%–4% of live birth children - suffer from birth defects
• To understand the gross anatomy of body and histological structures of the
tissues.
• Mutation of genes controlling the development → disease.
• Reproductive medicine: For better practice for the well-being of mother
and newborn.
• For infertility cases (in vitro fertilisation, intra uterine insemination).
• For prenatal diagnosis and fetal therapy (amniocentesis, chorionic villus
sampling).
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Periods of human embryology
• Germinal period: first three weeks
of development after fertilisation.
• Embryonic period: from fourth to
the eight week of development.
• Foetal period: from the third month,
up to termination of the pregnancy.
• Period of egg: It extends for one
week from fertilisation till the
implantation into the uterine wall.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Box 1.1: Chromosomes
• Each human cell has 46 chromosomes
except ovum (22 + X chromosomes) and
sperms (23,X or 23,Y chromosomes).
• 46 chromosomes: 22 pairs autosomes and
sex chromosomes (X and Y chromosome).
Structure
• Tightly coiled DNA around histone proteins.
• Sister chromatids connected at the centromere.
• Two arms, short arm (p arm, p for petit/small) and
long arm (q arm).
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Mitosis
• Maintains constant number of chromosomes in
parent and offspring cells.
• Preceded by S-phase in which the DNA duplicates.
Phases of mitosis
• Prophase: Chromosomes condense and become
visible, spindle fibres emerge from centrosomes,
nuclear envelope breaks down, centrosome move
towards the opposite pole.
• Prometaphase: Continued condensation of
chromosomes, centromeres become visible,
attachment of microtubules to the centromere.
• Metaphase: Chromosome arranged at the
metaphase plate, attachment of each sister
chromatids to spindle fibres from opposite pole.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Mitosis
• Anaphase: Centromeres split into two
sister chromatids are pulled towards
opposite poles.
• Telophase: Chromosomes arrive at
opposite poles; mitotic spindle breaks
and nuclear membrane starts
appearing.
• Cytokinesis: Cleavage furrow appears
to separate daughter cells.
Human Embryology/Yogesh Sontakke/2nd edn/CBS
Publishers
Meiosis
• Helps in the formation of gametes
with a haploid number of
chromosomes.
• First meiotic division = prophase I,
metaphase I, anaphase I and
telophase I
• Second meiotic division = prophase II,
metaphase II, anaphase II and
telophase II.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Meiosis
Prophase I: LZPD
• Leptotene: Chromosomes become visible
and condensed sister chromatids of each
chromosome are closely placed
• Zygotene: Synapsis or conjugation (pairing
of homologous chromosomes), paired
chromosomes are called bivalent or tetrad
chromosomes.
• Pachytene: Crossing over. The point of
contact of chromatids during crossing over
is called chiasmata.
• Diplotene: Homologoues chromosomes
separate apart from each other.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Meiosis
• Diplotene phase is followed by metaphase I,
anaphase I and telophase I.
• Anaphase I: No division of [Link]
• Daughter cells receive haploid
chromosomes.
• Second meiotic division = like mitosis.
• Mitosis → Four daughter cells with haploid
chromosomes
Significance of meiosis
• Formation of gametes
• Maintain constant chromosome number in
sexual reproduction.
• Exchange of genes in homologous
chromosomes → maintain genetic diversity
and mixing of characters.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Box 1.2: Non-disjunction
• Disjunction: usual separation of chromosomes in first meiotic
division or sister chromatids in the second meiotic division
• Non-disjunction: Abnormal segregation → resultant cells
receive less number of chromosomes or extra chromosome →
foetus with an abnormal number of chromosomes (trisomy or
monosomy).
• Examples:
⮚Down syndrome: trisomy of chromosome 21.
⮚Klinefelter syndrome: Extra X chromosome in males.
⮚Turner syndrome: lack of Y chromosome in phenotypic female (45,X).
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Phases of cell life
1 2 3 4
G1 phase: S phase: G2 phase: M-phase:
Cytoplasm Replication of Check point It is cell
increases in DNA for division
volume; confirmation phase.
damaged of duplicated
DNA gets chromatin.
repaired.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Differences between mitosis and meiosis
Event Mitosis Meiosis
Occurrence All cells of the body. Only in germ cells.
Process It is equational division. It is a reductional division.
Prophase No cross-over of genetic material. Cross-over of genetic material takes
No synapsis. place.
Synapsis occurs in zygotene phase.
Metaphase No chiasmata formation. Chiasmata formation.
Chromosomes arrange at the equator. Homologous chromosome arranges on
either side of the equator.
Anaphase Centromere divides. No division of centromere.
Chromatids move to opposite pole. Whole chromosome moves to opposite
pole.
Telophase Daughter cells with the same number Daughter cells with a haploid number
of chromosomes (46). of chromosomes (23).
Number of daughter cells Two. Four.
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
• Thank you…………….
Human Embryology/Yogesh Sontakke/2nd edn/CBS Publishers
