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Basic Embryology- 1
PROF DR DNYANDEO CHOPADE
MBBS, MS(ANAT), PHD (MEDICAL GENETICS)
ANATONLINE_DRDKCHOPADE170620
ANATONLINE_DRDKCHOPADE170620
Basic Embryology: Topics to be covered
 Introduction and Clinical Relevance
 Gametogenesis
 Ovulation to Implantation
 Bilaminar Germ Disc
 Trilaminar Germ Disc
 The Embryonic period
 Fetus and Placenta
 Birth Defects and Prenatal Diagnosis
Embryology is the branch of biology and medicine
concerned with the study of embryos and their
development.
AnatOnline_DrDKChopade170620
Objectives of Learning Embryology
 Understanding the fundamental processes that convert a
microscopic single cell into a multitrillion structure of the a
human adult
 Understanding the mechanisms responsible for congenital
malformations
 Understanding the basic principles of reproduction in the
practice of Infertility, Genetics and Fetal Medicine
ANATONLINE_DRDKCHOPADE170620
Knowledge of Embryology is essential for a
health care provider---
 It includes an investigation of molecular, cellular and systemic factors
contributing to the formation of an adult
 It helps in creating health care strategies for better reproductive
outcomes
 It results in newer techniques
• For prenatal diagnosis and treatments
• Therapeutic procedures to treat infertility
• To prevent birth defects
• To reduce infant mortality and morbidity
 Helps us understand the mechanism of postnatal diseases and their
management
 Helps us understand how the prenatal experiences play an important
role in our postnatal health.
ANATONLINE_DRDKCHOPADE170620
Embryology: History in brief--
 Aristotle (384-322 BC)- Founder of Embryology
• Study of chick embryo- theory that developing organisms go
through a series of stages before acquiring their final form, a theory
later called epigenesis.
• Embryo rose from menstrual blood after activation by sperm
 W. Harvey- Could not observe early stage of embryo.
So, he concluded that “Embryos are secreted by uterus”
 Leeuwenhoek (17th Century)- Used improved
microscope and observed the spermatozoa
 Mistakenly thought sperm contains the miniature preformed
human being that enlarged when it deposited in the female
genital tract
 Von Baer (1827)- Father of Embryology: described
oocyte in the ovarian follicle in dog
 Haeckel- “Ontogeny recapitulates Phylogeny”
Drawing of sperm (17th Century)
The miniature human being
within it was thought to enlarge
when the sperm enters the
ovum
Others believed that the oocyte
contained a miniature human
being that enlarged when it was
stimulated by a sperm
ANATONLINE_DRDKCHOPADE170620
Embryology: Major Stages
AnatOnline_DrDKChopade170620
Gametogenesis
 Primordial Germ Cells
 The chromosomal Theory of Inheritance
 Mitosis
 Meiosis
 Oogenesis
 Spermatogenesis
Gametogenesis:
Primordial Germ
Cells
§ Primordial Germ Cells give
rise to gametes- sperms
and eggs
 Meiosis- to reduce the
number of
chromosomes- 23 in
each gamete
 Cytodifferentiation to
complete maturation
ANATONLINE_DRDKCHOPADE170620
Primordial Germ
Cells
§ Gametogenesis: Primordial
Germ Cells give rise to
gametes- sperms and eggs
 Meiosis- to reduce the
number of
chromosomes- 23 in
each gamete
 Cytodifferentiation to
complete maturation
ANATONLINE_DRDKCHOPADE170620
The Chromosomal
Theory of Inheritance
§ Chromosomes- Diploid, 23 pairs
in body cells
§ Haploid, 23 in each gamete
§ 22 pairs of autosomes, one
pair of sex chromosomes
§ Sex Chromosomes- XX in
females, XY in males
§ Genes- 21300
§ Fertilization restores 46
chromosomes
§ 23 from oocyte and 23 from
sperm
ANATONLINE_DRDKCHOPADE170620
Mitosis
§ One cell divides into two
daughter cells, each with
genetic material identical to
the parent cell- 46
chromosomes
§ Four phases-
§ Prophase
§ Metaphase
§ Anaphase
§ Telophase
§ Centromere of each
chromosome divides during
anaphase
ANATONLINE_DRDKCHOPADE170620
Meiosis
§ Meiosis I- Actual Meiosis
o Prophase 1
o Metaphase 1
o Anaphase 1
o Telophase 1
§ Meiosis II – (Mitosis)
 Prophase 2
 Metaphase 2
 Anaphase 2
 Telophase 2
§ Meiosis results in four
daughter cells, each with half
the number of chromosomes,
that are recombined
ANATONLINE_DRDKCHOPADE170620
Meiosis- Crossing over
and Recombination
§ Occurs In prophase I of Meiosis
§ Leads to exchange of
chromosome segments between
sister chromatids
§ Creates new combinations of
genes
§ Pairing creates a tetrad/ bivalent
§ Point of attachment of two
chromosomes is Chiasmata
§ Leads to
§ different combination of
genes than parents
§ Haploid chromosomes in each
gamete
ANATONLINE_DRDKCHOPADE170620
Polar Bodies
§ One primary oocyte gives
rise to four daughter cells
§ Each daughter cell has 22
autosomes and one X
Chromosome
§ Only one matures into
oocyte and the other three
are polar bodies
§ Polar bodies do not have
cytoplasm
§ Inn case of
spermatogenesis, each
spematogonia forms four
mature sperms
ANATONLINE_DRDKCHOPADE170620
Chromosomal
Abnormalities
 Numerical
§ Polyploidies
o Triploidy
o Tetra ploidy
§ Aneuploidies
o Trisomy
o Monosomy
o Tetrasomy
 Structural
o Deletion
o Duplication
o Inversion
o Insertion
o Ring
o Marker
o Unbalanced
o Balanced
o Robertsonian Translocation
ANATONLINE_DRDKCHOPADE170620
TRISOMY 21 (Down Syndrome)
Chromosomal
Abnormalities
ANATONLINE_DRDKCHOPADE170620
TRISOMY 18 (Edwards Syndrome)
Chromosomal
Abnormalities
ANATONLINE_DRDKCHOPADE170620
TRISOMY 13 (Patau Syndrome)
Chromosomal
Abnormalities
ANATONLINE_DRDKCHOPADE170620
Monosomy X (Turner Syndrome)
Chromosomal
Abnormalities
ANATONLINE_DRDKCHOPADE170620
47, XXY; Klinefelter's Syndrome
Chromosomal
Abnormalities
ANATONLINE_DRDKCHOPADE170620
Oogenesis
§ Ovulation- between menarche and
menopause
§ Oocytes in ovaries-
§ 2 Million at birth
§ 40, 000 at puberty
§ 400 ovulated over lifetime
§ Primordial germ cells 2N
§ Oogonium- 2N
§ Primary Oocyte 2N
§ Between birth and Puberty- Prophase I of
meiosis
§ At Puberty FSH completes Meiosis I
§ Secondary Oocyte 1N; Polar body
§ Meiosis II- Stimulated by fertilization
§ Ovum 1N; second polar body
ANATONLINE_DRDKCHOPADE170620
ANATONLINE_DRDKCHOPADE170620
Development of
Egg (Oogenesis)
Development of Follicle
Before Birth
Development of Egg (Oogenesis) Development of Follicle
Adolescence to Menopause
Spermatogenesis
§ Mitosis
§ Meiosis
§ Spermiogenesis
§ Head
§ Midpiece
§ Tail
§ Capacitation
§ Lifespan of a spermatozoa
§ Puberty through life
§ 40- 1000 million p d
§ 72 days for sperm
production
§ 10-14 days for transport
(epididymis)
§ 20-100 million per ml of
ejaculate
ANATONLINE_DRDKCHOPADE170620
Spermiogenesis
§ Transformation of a
spermatid into a mature
sperm
§ Formation of the
acrosome, which covers
the nuclear surface
§ Condensation of nucleus
§ Formation of neck, middle
piece and tail
§ Shedding of the cytoplasm
ANATONLINE_DRDKCHOPADE170620
Thank You
ANATONLINE_DRDKCHOPADE170620
PROF. DR. DNYANDEO CHOPADE
MBBS, MS (Anatomy), PHD (Medical Genetics),
BJ(MCJ), PGD(JMC), MBA
drchopade@geneticsindia.com, drchopade@hotmail.com

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Basic embryology 1- Gametogenesis

  • 1. Basic Embryology- 1 PROF DR DNYANDEO CHOPADE MBBS, MS(ANAT), PHD (MEDICAL GENETICS) ANATONLINE_DRDKCHOPADE170620
  • 2. ANATONLINE_DRDKCHOPADE170620 Basic Embryology: Topics to be covered  Introduction and Clinical Relevance  Gametogenesis  Ovulation to Implantation  Bilaminar Germ Disc  Trilaminar Germ Disc  The Embryonic period  Fetus and Placenta  Birth Defects and Prenatal Diagnosis Embryology is the branch of biology and medicine concerned with the study of embryos and their development.
  • 3. AnatOnline_DrDKChopade170620 Objectives of Learning Embryology  Understanding the fundamental processes that convert a microscopic single cell into a multitrillion structure of the a human adult  Understanding the mechanisms responsible for congenital malformations  Understanding the basic principles of reproduction in the practice of Infertility, Genetics and Fetal Medicine
  • 4. ANATONLINE_DRDKCHOPADE170620 Knowledge of Embryology is essential for a health care provider---  It includes an investigation of molecular, cellular and systemic factors contributing to the formation of an adult  It helps in creating health care strategies for better reproductive outcomes  It results in newer techniques • For prenatal diagnosis and treatments • Therapeutic procedures to treat infertility • To prevent birth defects • To reduce infant mortality and morbidity  Helps us understand the mechanism of postnatal diseases and their management  Helps us understand how the prenatal experiences play an important role in our postnatal health.
  • 5. ANATONLINE_DRDKCHOPADE170620 Embryology: History in brief--  Aristotle (384-322 BC)- Founder of Embryology • Study of chick embryo- theory that developing organisms go through a series of stages before acquiring their final form, a theory later called epigenesis. • Embryo rose from menstrual blood after activation by sperm  W. Harvey- Could not observe early stage of embryo. So, he concluded that “Embryos are secreted by uterus”  Leeuwenhoek (17th Century)- Used improved microscope and observed the spermatozoa  Mistakenly thought sperm contains the miniature preformed human being that enlarged when it deposited in the female genital tract  Von Baer (1827)- Father of Embryology: described oocyte in the ovarian follicle in dog  Haeckel- “Ontogeny recapitulates Phylogeny” Drawing of sperm (17th Century) The miniature human being within it was thought to enlarge when the sperm enters the ovum Others believed that the oocyte contained a miniature human being that enlarged when it was stimulated by a sperm
  • 7. AnatOnline_DrDKChopade170620 Gametogenesis  Primordial Germ Cells  The chromosomal Theory of Inheritance  Mitosis  Meiosis  Oogenesis  Spermatogenesis
  • 8. Gametogenesis: Primordial Germ Cells § Primordial Germ Cells give rise to gametes- sperms and eggs  Meiosis- to reduce the number of chromosomes- 23 in each gamete  Cytodifferentiation to complete maturation ANATONLINE_DRDKCHOPADE170620
  • 9. Primordial Germ Cells § Gametogenesis: Primordial Germ Cells give rise to gametes- sperms and eggs  Meiosis- to reduce the number of chromosomes- 23 in each gamete  Cytodifferentiation to complete maturation ANATONLINE_DRDKCHOPADE170620
  • 10. The Chromosomal Theory of Inheritance § Chromosomes- Diploid, 23 pairs in body cells § Haploid, 23 in each gamete § 22 pairs of autosomes, one pair of sex chromosomes § Sex Chromosomes- XX in females, XY in males § Genes- 21300 § Fertilization restores 46 chromosomes § 23 from oocyte and 23 from sperm ANATONLINE_DRDKCHOPADE170620
  • 11. Mitosis § One cell divides into two daughter cells, each with genetic material identical to the parent cell- 46 chromosomes § Four phases- § Prophase § Metaphase § Anaphase § Telophase § Centromere of each chromosome divides during anaphase ANATONLINE_DRDKCHOPADE170620
  • 12. Meiosis § Meiosis I- Actual Meiosis o Prophase 1 o Metaphase 1 o Anaphase 1 o Telophase 1 § Meiosis II – (Mitosis)  Prophase 2  Metaphase 2  Anaphase 2  Telophase 2 § Meiosis results in four daughter cells, each with half the number of chromosomes, that are recombined ANATONLINE_DRDKCHOPADE170620
  • 13. Meiosis- Crossing over and Recombination § Occurs In prophase I of Meiosis § Leads to exchange of chromosome segments between sister chromatids § Creates new combinations of genes § Pairing creates a tetrad/ bivalent § Point of attachment of two chromosomes is Chiasmata § Leads to § different combination of genes than parents § Haploid chromosomes in each gamete ANATONLINE_DRDKCHOPADE170620
  • 14. Polar Bodies § One primary oocyte gives rise to four daughter cells § Each daughter cell has 22 autosomes and one X Chromosome § Only one matures into oocyte and the other three are polar bodies § Polar bodies do not have cytoplasm § Inn case of spermatogenesis, each spematogonia forms four mature sperms ANATONLINE_DRDKCHOPADE170620
  • 15. Chromosomal Abnormalities  Numerical § Polyploidies o Triploidy o Tetra ploidy § Aneuploidies o Trisomy o Monosomy o Tetrasomy  Structural o Deletion o Duplication o Inversion o Insertion o Ring o Marker o Unbalanced o Balanced o Robertsonian Translocation ANATONLINE_DRDKCHOPADE170620 TRISOMY 21 (Down Syndrome)
  • 21. Oogenesis § Ovulation- between menarche and menopause § Oocytes in ovaries- § 2 Million at birth § 40, 000 at puberty § 400 ovulated over lifetime § Primordial germ cells 2N § Oogonium- 2N § Primary Oocyte 2N § Between birth and Puberty- Prophase I of meiosis § At Puberty FSH completes Meiosis I § Secondary Oocyte 1N; Polar body § Meiosis II- Stimulated by fertilization § Ovum 1N; second polar body ANATONLINE_DRDKCHOPADE170620
  • 22. ANATONLINE_DRDKCHOPADE170620 Development of Egg (Oogenesis) Development of Follicle Before Birth Development of Egg (Oogenesis) Development of Follicle Adolescence to Menopause
  • 23. Spermatogenesis § Mitosis § Meiosis § Spermiogenesis § Head § Midpiece § Tail § Capacitation § Lifespan of a spermatozoa § Puberty through life § 40- 1000 million p d § 72 days for sperm production § 10-14 days for transport (epididymis) § 20-100 million per ml of ejaculate ANATONLINE_DRDKCHOPADE170620
  • 24. Spermiogenesis § Transformation of a spermatid into a mature sperm § Formation of the acrosome, which covers the nuclear surface § Condensation of nucleus § Formation of neck, middle piece and tail § Shedding of the cytoplasm ANATONLINE_DRDKCHOPADE170620
  • 25. Thank You ANATONLINE_DRDKCHOPADE170620 PROF. DR. DNYANDEO CHOPADE MBBS, MS (Anatomy), PHD (Medical Genetics), BJ(MCJ), PGD(JMC), MBA drchopade@geneticsindia.com, drchopade@hotmail.com