ANATOMY: EMBRYOLOGY
EMBRYOLOGY
 Is a science that studies the normal
development as well as birth defects of a
human being in the maternal uterus
 Study of the origin and development of a
single individual
 Begins with fertilization
 A single fertilized cell divides by mitosis to
produce all of the cells in the body
 From 1 cell (zygote) to (5-7) x 10^12 cells
The Prenatal Period
 The first 38 weeks of human development
o Between fertilization and birth
 Pre- embryonic period
o 1-2 weeks of development
o Zygote becomes a spherical,
multicellular structure
o blastocytes
 Embryonic period
o 3-8 weeks
o All major organ systems appear
o Disc embryo  folded embryo
o Induction, proliferation,
differentiation and maturation
 Fetal period
o 9 week onward
o Remaining 30 weeks
o Embryo  fetus
o Marturation
Development processes in the embryo
Induction
 Action of one group of cells on another that
leads to the establishment of the
developmental pathway In responding to
tissue
Proliferation
 Controlled cellular growth and
accumulation of byproducts
Differentiation
 Change in identical embryonic cells to
become distinct structurally and
functionally
Morphogenesis
 Development of specific tissue structure or
differing form due to embryonic cell
migration and inductive interactions
Maturation
 Attainment of adult function and size due to
proliferation, differentiation and
morphogenesis
EMBRYONIC PERIOD
Duration: first 8 weeks after conception
Major embryologic events
 Organs form three primary germ tissues
 Emergence of the basic body plan
o 25 days at 3.5 mm
o 36 days at 10 mm
o 56 day at 30 mm
The stages of embryogenesis
Zygote  8 cell  blastula (hollow ball)  Gastrilation
Cleavage
 Zygote divides by mitosis
 Forms a multicellular structure called a
blastocyst/ blastula
Gastrulation
 Blastocyst cells form three primary germ
layered gastrula (endoderm, mesoderm,
ectoderm)
 Basic cell structures from which all body
tissues develop
Organogenesis
 Three primary germ layers arrange
themselves in ways that give rise to all the
body organs within the body
FETAL PERIOD
 Includes remaining weeks of development
prior to birth
 The fetus continues to grow (20 weeks at
18.5 cm)
 Its organs increase in complecity
 Duration: weeks 9 to 38 after conception or
until birth
  Major fetal events: organs grow in size and  Male germ cells
complexity
oInitially larhe and round 
GAMETOGENESIS
becomes small
Following birth, an individual undergoes maturation o Loses all its cytoplasm
o Develops head, neck and tail
 The body grows and develops
 Female germ cells
 The sex organs become mature
o Become large
 The sex organs then begin to produce
o Increases amount of cytoplasm
gametes
Chromosomal Changes During Germ Cell and
FERTILIZATION
Maturation
 The beginning of development
Human Somatic Cell- 46 chromosomes
 Process by which two highly specialized
cells  44 autosomes (matching chromosomes)
o Spermatozoon from the male  2 sex chromosomes- x and y
o Oocyte from the female  XY male chromosome
 Sperm + ovum = Zygote (a new organism)  XX female chromosomes
 Ampulla- most common site of fertilization
Traits of a new individual are determined by specific
ORIGIN OF THE GAMETES genes on chromosomes inherited from the father and
mother
 Gametes are derived from primordial germ
cells (PGCs) Chromosome theory of Inheritance
 Formed in epiblast during the 2nd week,
 Humans have 23,000 genes on 46
move through the primitive streak during
chromosomes
gastrulation and migrate to the wall of the
 Genes on the same chromosomes tend to
yolk sac
be inherited together  called LINKED
 PGCs at 4th week migrate from yolk sac to
GENES
the developing Gonads, where they arrive
o Genes are called linked when they
at the end of the 5th week
are physically close to each other
 Mitotic divisons increase their number
on the same chromosome
during their migration and also when they
 Genes that are carried by either sex
arrive in the gonad
chromosome  called SEX LINKED
Before fertilization  Importance of genetic linkage has to do
with the X and Y sex chromosomes.
Both male and female germ cells undergo changes both
o Carry the genes that determine
in the:
male and female traits
 Chromosomes- reduction in number o Genes for some other
 Cytoplasm (cytodifferentiation)- to characteristics
complete the maturation
CHROMOSOME THEORY OF INHERITANCE
PURPOSES OF THE CHANGES
 Men  X and Y combination of sex
 Reduction in the number of chromosomes chromosomes
to half in the normal somatic cell from 46   Women  have 2 X’s
23 done by 2 specialized divisions called o Inherit only X linked traits
meiotic and maturation division
 Alteration In the shape of the germ cells in
preparation for fertilization
CELL  CHROMOSOME  Haploid
 Haploid
 Our body is made up of millions of cells
o Found in the gametes and is half
 Each cell contains a set of chemical
the number in the somatic cells
structures known as chromosomes
o (n) cellular condition where each
CHROMOSOME  GENE chromosome type is represented by
only one chromosome
A chromosome is made up of genes
 Homologous chromosome
 Every living cell contains DNA o Chromosome of the same size and
o DNA is like a large recipe book that shape which carry the same type of
determines all of the characteristics genes
that are specific to individual  Chromosome
organisms o Chromatid- one of two duplicated
 Small sections of DNA are called genes chromosomes connected at the
o Genes are like the ingredients that centromere
are needed to make up each o Centromere- region of
individual recipe chromosomes where microtubules
o Each gene represents a specific attach during mitosis and meiosis.
protein molecule o Telomeres- are sequences at the
o Different types of protein carry out ends of the chromosomes
different functions  Telomeres do not contain
the codes for protein
CHROMOSOME  Are not genes
 There are 46 chromosomes  Functions:
 Arranged in 23 pairs  Protect the ends of
 Found in each cell in the body chromosomes from
damage
GENES  Prevents
 basic unit of heredity chromosomes from
 found in the cells of all living organisms, fusing into rings
from bacteria to humans  Prevents
 determines the physical characteristics chromosomes from
o eye color binding
o height haphazardly to
o predisposition to genetic diseases other DNA nucleus

MATURATION OR MEIOTIC DIVISION

CHROMOSOMES
 The number of chromosomes reduced to
 one chromosome of each pair
half the normal number
o from father
 Before the first meiotic division, the male
o from mother
and female primitive germ cells
 homologous pair
o Replicate their DNA
o partners of an autosome with the
o Double the amount of DNA (4n)
same morphological characteristics
o Char of meiosis- pairing of the
 diploid (diploos- double)
homologous chromosomes
o 2 pair of chromosomes of 46
 Pairing is exact and point for point, except
o 2n- cellular condition where each
for the XY combination
chromosome type is represented by
two homologous chromosomes
  Homologous pair consist of 4 chromatids- o trisomy
each individual chromosome is double o monosomy
structure therefore two chromatids o nondisjunction
o translocation balanced
CHIASMA
o translocation unbalanced
 Is a link between chromatids belonging to
different chromosomes of a pair ABNORMAL MEIOTIC DIVISION
 Appears as X links as the chromosome Nondisjuction
CROSSING OVER  separation does not occur during the first
 Blocks of genes are exchanged between meiotic division
homologous chromosomes  both members of a pair move into one cell
 As a result of crossing-over, genetic resulting to
recombination occurred  trisonomy
o the presence of an extra
MEIOSIS chromosome makes the individual
trisomic
 Special type of cell division
 monosomy
o Involving the maturation of SEX
o presence of only one chromosome
CELLS
from a pair
o 2 successive nuclear divisions:
 Meiosis I- reduction of Examples of trisomy of the Autosome
chromosomes from normal
diploid reduced to haploid  trisomy 21 or Down’s Syndrome
number (2n to n) o extra chromosome 21
 Meiosis II- division of the  Trisomy 18 or E syndrome
remaining set of  Trisomy 13-15 or D syndrome
chromosome in a mitosis Example of trisomy of the sex chromosomes
like process
o Produces 4 haploid cells  Klinefelter syndrome
o Extra X chromosomes in male
PURPOSES OF THE 2 MEIOTIC OR MATURATION (XXY, XXXY, XXXXY)
DIVISION  XYY syndrome
 To enable the members of the homologous o An extra Y chromosome in males
chromosome pair to exchange blocks of  Turner syndrome
genetic material (first meiotic) o Atypical X chromosome dosage in
 Toi proved each germ cell with both haploid females (XO, XXX, XXXX)
number of chromosomes and half the DOWN SYNDROME
amount of DNA of a normal somatic cell (2nd
meiosis)  Trisomy 21
o Growth retardation
Euploidy o Mental retardation- varying degree
 Refers to an exact multiple N or DNA o Craniofacial abnormalities
o Diploid  Upward slanting eyes
o Haploid  Epicanthal folds (extra skin
folds at the medial corners
Aneuploid of the eyes)
 refers to any chromosome number that is  Flat facies
not euploid  Small ears
o Cardiac defects
 o Hypotonia  Nondisjunction of the XX homologue- is the
o Simian crease most common causative event

TURNER SYNDROME

EDWARD SYNDROME  Found in women

 Absence of ovaries (gonadal dysgenesis)
 Trisomy 18  Short stature
o Mental retardation  Webbed neck
o Congenital heart defects  Lymphedema of the extremities
o Low set ears  Skeletal deformities
o Flexion of fingers and hands  Broad chest with widely spaced nipples
o Micrognathia  55% of affected women are monosomic for
o Renal abnormalities the X and chromatin negative due to
o Syndactyly nondisjunction
o Malformations of the skeletal  80% nondisjunction in the male gamete is
system the cause.
PATAU SYNDROME

 Trisomy 13
o Mental retardation
o Holoprosencephaly
o Congenital heart defects
o Deafness
o Cleft lip and palate
o Eye defects (microphthalmia,
anophthalmia or coloboma)

Coloboma

 Cat eye syndrome- is a hole in one of the

structure of the eyes such as the lens,
eyelid, iris, retina. Choroid or optic disc
 The hole is present from birth
 Gap between two structures in the eye- fail
to close up completely before a child is born
 Occur in 1 or both eye

KINEFELTER SYNDROME

 Found only in males

 Detected in puberty
o Sterility
o Testicular atrophy
o Hyalinizaton of the seminiferous
tubules
o Gynecomastia
 47 chromosomes with sex chromosomal
complement of the XXXY type and a sex
chromatin body fo=und in 80% of cases