Introduction to

Embryology

Prof YAMA O.E.

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Outline
• Definition/What is Embryology?
• Timelines of developments
• Cell cycle & Cell division
• Applied embryology
• Different Karyotypes

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• Definition/What is Embryology?:
• Embryology is derived from the word
EMBRYO meaning "young organism” in
the early stages of development.
• Embryology is the study of development
young organism from the periods of
fertilization through the formation of a
zygote (single cell embryo) to a full term
fetus (multicellular organism).

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 Significance of studying embryology
• Embryology provides, the knowledge &
understanding of:
• (a) the development of the different tissues/organs
from a single cell zygote (i.e. the beginning of
human life) & its changes into a complex
multicellular organism & therefore the basis for
understanding of the functional activity of the
organism during development,
• (b) the normal relationships & positions of normal
adult structures,
• (c) mechanisms underlying diseases/tumours &
congenital malformations & possible means of
preventions of such abnormalities,
• (c) other fields of medicine 4
• Human development is divided into:
• (1.) Prenatal (Antenatal) period:
– Pre-embryonic or Germinal period (Wk0-2): Is the
period immediately after fertilization characterized by
cell division & initial differentiation (cell maturation)
– Embryonic period (Wk3-8): Is the period of
organogenesis entails a process of development from a
single cell zygote (pre-embryonic phase) till the
formation of organ primordia.
– Fetal Periods (Wk9-38/40): Here there is further growth
& differentiation, with organs becoming more
functionally specialized as the entire fetus grows & gains
weight
• (2.) Natal period: Delivery or birth of a full
term fetus
• (3.) Postnatal period: Is the period after birth 5
 Pre-embryonic & Embryonic
Periods: 0-8 weeks
• Process of progressing
from a single cell till the
formation of organ
primordia

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 Fetal Period: 9-38/40 weeks
Differentiation continues while the
fetus grows & gains weight

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• Gestation/Pregnancy/Cyesis: Is the period
that range from fertilization to birth or
delivery of a fetus.
• It is measured in trimesters from Day 1 of
your last menstrual period to Wk40 of full
term.
• (a) First trimester: 0-12Wk (about 3 months)
• (b) Second trimester: 13-28Wk
• (c) Third trimester: 29-40Wk (Birth)
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• There are TWO cell types in the Humans:
1. Somatic (of Body) &
2. Sex/germ (of Gonads) = [Testes: male produce
gametes (spermatozoa) by a process of cell
division called spermatogenesis & Ovary: female
gametes (ova) are produced by oogenesis].
• Spermatogenesis & Oogenesis=Gametogenesis

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• In the human cells, there are 46 (or 23 pairs)
chromosomes divided into:
– 44 autosomes &
– 2 sex chromosomes (male the 2 are XY, for female XX)
• This means 44+XX or 44+XY gives a total 46
(Diploid number)
• Somatic cells have diploid number 46 (44+XX or
44+XY)
• Gonadal cells have haploid number 23 (22+X or
22+Y)
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• The Cell cycle
• It involves Mitotic (M) phase & Interphase (I).
• Interphase (I): the interphase occurs in-between two M
divisions, it is divided into 3 stages: G1, S & G2 stages.
(Note G=Gap/Growth; S= Synthesis).
– G1-phase (post-mitotic): occurs at end of cell division
with the newly formed cells accumulating Energy,
actively producing RNA, Protein & preparing the cell to
go into S-phase (‘‘PRE’’=Protein, RNA, Energy)
– S-phase: In synthesis phase, the centrioles &
chromosome (DNA) are synthesized by duplicating.
– G2-phase (pre-mitotic phase) or invisible phase:
synthesis of RNA & Protein continues with the
development of macromolecules (which are
‘ingredients’ or ‘raw materials’ for Spindle formation) &
prepare to go into mitotic phase.
(Recall: ‘‘PRE’’ of G1 phase + Spindle)
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PRE + Spindle
‘‘PRE’’=Protein, RNA, Energy

Interphase (I)

The Cell cycle

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• In Cell division: The cells increase in
number (i.e. replicates itself) by the
splitting or dividing of pre-existing
cells.
• There 2 types of this division:
• (a) Mitosis which occurs both in
somatic & gonadal cells &
• (b) Meiosis which occurs only in
gonadal cells 13
 (A) Mitosis
• Has five (5) phases viz: I-PMAT:
– I=Interphase: the indistinctly long
chromosome duplicates
– P=Prophase: “CCNS”:
• Chromosomes become distinctly
short;
• Centrioles (two) separate to
opposite poles;
• Nuclear membrane disappears;
• Spindles form i.e. are synthesized
from macromolecules
– M=Metaphase: chromosomes are
equatorially aligned & attached to
spindles
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– A=Anaphase: is vertical
splitting at centromere &
movement so that there are 2-
pairs of chromosomes one of
each pair moves to either pole.
– T=Telophase: This stage is
when 2 daughter cells of
identical genetic constituents
are formed. Recall “CCNS” of
prophase.
• Chromosomes becomes
indistinctly long;
• Centrioles divide into two
(Note: if Centrioles divide here,
then it will not do so at the
interphase S phase & vice-
versa);
• Nuclear membrane appears;
• Spindles disappear.
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 (B) Meiosis
• Meiosis 1 & 2: Meiosis 1 [I1-
P1M1A1T1] is reduction division &
Meiosis 2 [I2-P2M2A2T2] is mitosis
• (i.) Meiosis 1 [I1-P1M1A1T1]:
– I1=Interphase 1: indistinctly long
chromosome duplicates
– P1=Prophase 1: “C[LeZyPaDiDi]CNS”:
• Chromosomes undergoes
‘LeZyPaDiDi’
• Leptotene: visible
• Zygotene: pair
• Pachytene: cross over to exchange
genetic material
• Diplotene: chiasmata visible,
separation begin
• Diakinesis: separation complete
• Centrioles migrates to opposite poles;
• Nuclear membrane disappears;
• Spindles form
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• M1=Metaphase 1: equatorial
alignment of chromosomes
attached to spindles
• A1=Anaphase 1: there is no
splitting at the centromere
but whole chromosomes
(one pair) moves to either
poles so that there is a
haploid number.
• T1=Telophase 1: “CCNS”:
– Chromosomes becomes
indistinctly long;
– Centrioles divide into two;
– Nuclear membrane forms &
– Spindles disappear.
Telophase 1 results in 2
haploid daughter cells with
non-identical genetic
constituents.
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• (ii) Meiosis 2 [I2-P2M2A2T2]:
• This is similar to Mitosis EXCEPT in I2 there
is NO duplication of chromosomes. The
daughter cells are similar.

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• Applied embryology
• Chromosomal abnormalities may results from:(“No
ATMC”): Non-dysjunction, Anaphase lag, Translocations,
Mosaics & Chimeras
– Non-dysjunction or non separation: is failure of relevant
chromosome to separate at meiosis 1 (prophase 1: this is
failure of diakinesis)
– Anaphase lag is when sister chromatids do not separate
appropriately from each other during anaphase & one
daughter cell lacks a complete pair of chromosome while
the other receive a complete set causing a form of
aneuploidy.
– Translocation: a rearrangement caused when a segment
of chromosome is moved from one point to another
either within same or another chromosome
– Mosaics & Chimeras: One/same zygote (Mosaics) or
two zygotes (Chimeras) results in an individual that has
cells of different chromosome constituents due to
anaphase lag or non-dysjunction. 19
• Karyotype is defined as the number,
size & shape of chromosomes in an
organism.
• Recall: human cells, there are 46 (or
23 pairs) chromosomes divided into:
– 44 Autosomes &
– 2 Sex chromosomes (male the 2
are XY, for female XX)
• A cell may have discrepant number
of chromosomes due to addition or
loss of chromosome(s), the condition
is referred to as Aneuploidy
• It may affect the Autosomal or Sex-
chromosomal component, therefore
there may be:
– Autosomal aneuploidy or
– Sex-chromosomal aneuploidy
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• Autosomal aneuploidy:
–(a) Autosomal trisomies: here, a single
chromosome copy is gained or added to its
usual normal pair (2).
–This abnormal addition may occur at any of
the autosomal chromosome pair(s) locations
e.g. 21, 18, 13 etc.
–There present are 3 copies of chromosomes
instead of 2. Note this aberration in number
excludes the sex-chromosomes.
–Autosomal trisomies can be associated with
birth defects, intellectual disability &
shortened life expectancy.
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– In the occasion that an
aneuploidy gamete is fertilized
a number of syndromes would
arise:
oDown’s syndrome (most common
& the only compatible with life)
is a trisomy of chromosome 21
commonly results from non-
dysjunction during maternal
meiosis 1. Advanced maternal age
is linked with greater risk of
meiotic non-dysjunction likely
associated with the prolonged (
40 yr) of meiotic arrest.
oEdwards’s syndrome (trisomy of
chromosome 18) &
oPatau’s syndrome (trisomy of
chromosome 13).
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• Sex-chromosome aneuploidy:
– (a) Sex-chromosome monosomy a single chromosome (2n-
1) number is missing from one of its pairs. The only viable
monosomy is Turner syndrome, where the affected
individual is monosomic for the X chromosome (X
monosomy), karyotype 45 (44; X0). During embryonic
development an overwhelming majority (>99%) of fetuses
with only one X chromosome are spontaneously aborted.

– (b) Sex-chromosome trisomy here a single chromosome

copy is gained/ added to its normal sex-chromosome pair.
Compared to trisomies of the autosomal chromosomes,
trisomy of sex chromosomes normally has less severe
consequences. Individuals may show few or no symptoms &
have a normal life expectancy.
• Example include:
• (i.) XXY (Klinefelter syndrome)
karyotype 47 (44; XXY): most common, a
male having an extra X chromosome with.
It is the most frequent cause of
hypogonadism & infertility in men. Most
cases are caused by non-dysjunction
errors during paternal meiosis.
• (ii.) XYY Male karyotype 47 (44; XYY).
The incidence is ≈1 in 800-1000 male
births. Many cases remain undiagnosed
because of their normal appearance &
fertility with the absence of severe
symptoms. The extra Y chromosome is
usually a result of non-dysjunction during
paternal meiosis 2.
• (iii.) XXX (Triple X syndrome) karyotype
47 (44; XXX) are females with 3 instead
of 2 X chromosomes. 24
Summary

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THE END

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