EMBRIOLOGI

UMUM
Dr. Thontowi Djauhari NS, MKes

Awalnya
manusia
mempunyai
46 kromos
(diploid)
Proses
Meiosis akan
mengurangi
jumlah sel
menjadi 23
kromosom
(haploid)
Penyatuan ovum
+ sperma akan
menghasilkan 46
kromosom

Haploid gametes (n = 23)

Egg cell haploid

MEIOSIS

Sperm cell haploid

FERTILIZATION

Diploid
zygote
(2n = 46)
Multicellular
diploid adults
(2n = 46)

Mitosis and
development

GAMETOGENESIS
PEMBENTUKAN
SEL SEKS PRIA
DAN WANITA
ATAU SEL GAMET
YANG BERASAL
DARI GERM CELLS
OOGENESIS
TERJADI PADA
WANITA
SPERMATOGENESI
S
TERJADI PADA
PRIA

Testis and Formation of Sperm

2n

2n

The Ovary and Formation of

an Ovum
2n

GAMETOGENESIS

MITOSIS: MENJADI 2 SEL YANG SAMA

MEIOSIS :

I : - PAIRING KROMOSOM HOMOLOG

- CROSS OVER (PERTUKARAN SEGMEN)
II: - SINTESIS DNA TIDAK TERJADI
- PEMISAHAN KROMOSOM GANDA
MENJADI TUNGGAL

MITOSIS

Mitosis is a continuum
but biologists distinguish
4 stages

Prophase
Metaphase
Anaphase
Telophase

MEIOSIS

Percampuran materi genetis pada waktu

cross over sehingga dapat terjadi variasi
genetis
Supaya sel kelamin menjadi kromosom
haploid dengan jumlah DNA dari jumlah
DNA sel somatis (meiosis 2)

MEIOSIS I: Homologous chromosomes separate

INTERPHASE
Centrosomes
(with
centriole
pairs)

Nuclear
envelope

Figure 8.14, part 1

PROPHASE I

METAPHASE I

Microtubules
attached to
Spindle kinetochore

Sites of crossing over

Chromatin

Sister
chromatids

Tetrad

Metaphase
plate

Centromere
(with kinetochore)

ANAPHASE I
Sister chromatids
remain attached

Homologous
chromosomes separate

MEIOSIS II: Sister chromatids separate

TELOPHASE I
AND CYTOKINESIS

PROPHASE II

METAPHASE II

ANAPHASE II

TELOPHASE II
AND CYTOKINESIS

Cleavage
furrow

Sister
chromatids
separate

Figure 8.14, part 2

Haploid
daughter cells
forming

KELAINAN

NON DYSJUNCTION
Non dysjunction dapat terjadi pada waktu
meiosis 1 atau meiosis 2
Turner Syndrome
45,XO
(female)
Trisomy X
47, XXX
(female)
Klinefelter Syndrome
47,XXY
(male)
Extra Y chromosome 47,XYY (male)

Nondisjuction

Down syndrome:
trisomy for Chr
21 (47 Mb)

normal
disjoining

nondisjoining

nondisjoining

trisomy of chromosome number 21

(1 in 700 births)mental
retardation, mongoloid features, and
heart defects

XO Turner Syndrome

Turner Syndrome (XO), Incidence: 1 in 2500 female births

Females missing one X chromosome (XO)

XXY Klinefelter Syndrome

Klinefelter Syndrome (XXY), Incidence: 1:1000 male births

Males with an extra X chromosome (XXY) (1 in 1000 male births)

Situation

Sex Chromosome
Aneuploidy
Oocyte Sperm Consequence

Normal
Female
Nondisjunction

46, XY normal male

46, XX normal female

XX

47, XXY Klinefelter syndrome

XX

47, XXX triplo-X

45, Y nonviable

45, X Turner syndrome

Male
Nondisjunction
(meiosis I)

X
X

XX

47, XXX triplo-X

Male
nondisjunction
(meiosis II)

YY

47, XYY Jacobs syndrome

45, X Turner syndrome

45, X Turner syndrome

FERTILISASI
DEFINISI : Fertilisasi adalah proses fusi antara
nukleus spermatosoa dengan ovum
Fertilisasi dimulai dengan reaksi akrosom dari Spermatosoa
dan diakhiri dengan aktivasi Oocyt
Selama di dalam tractus genitalis perempuan,sebelum
fertilisasi, spermatosoa mengalami :
Kapasitasi: pelepasan glikoprotein dan protein plasma
Reaksi akrosom: pelepasan ensim untuk mencairkan
corona radiata dan zona pellucida

C
A : Belum Kapasitasi
B : Kapasitasi
C : Reaksi Akrosom

FERTILISASI

Bila 1 spermatosoa masuk ke dalam nukleus

ovum, maka terjadi reaksi ovum, membrana
oosit tidak dapat ditembus sperma lagi
Nukleus sperma (23 kromosom) fusi dengan
nukleus oosit (23 kromosom) menjadi sigot
(46 kromosom)

Prenatal Development

Embryonic
development
fertilization - 8 weeks

Fetal
development
9 weeks - birth

time period from fertilization to birth = gestation

Postnatal Development

Development Overview
Eggs form and mature in female
reproductive organs, and sperm
form and mature in male
reproductive organs.
A sperm and an egg fuse at their
plasma membrane, then the nucleus
of one fuses with the nucleus of the
other to form the zygote.

By a series of mitotic cell divisions,

different daughter cells receive
different regions of the egg
cytoplasm.
Cell divisions, migrations, and
rearrangements produce two or
three primary tissues, the
forerunners of specialized tissues
and organs.

Gamete formation

frog egg

Fertilization

frog sperm

Morula
Blastocy
st
Implanta
tion

Cleavage

Gastrulation

midsectional views
Subpopulations of cells are
sculpted into specialized organs
and tissues in prescribed spatial
patterns at prescribed times.

Neurulation
Organ
formation
top view

Organs increase in size and

gradually assume specialized
functions.

Growth, tissue
specialization

side view

PERKEMBANGAN EMBRIO
MINGGU PERTAMA

Periode ovulasi sampai implantasi

Berlangsung 6 hari
Sigot mengalami pembelahan sel:
2 sel 4 sel 8 sel 16 sel (morula)
Saat nampak lubang (vacuola) pada
perkembangan morula : free blastocyst

Early division of zygote into multiple cells

without increase in size, partitions
contents

Cleavage

Morula

solid ball of cells

Zygote
Blastocyst

with blastocoele cavity

Periode implantasi
Berlangsung mulai hari ke 6 saat
melekatnya blastocyst pada epithel
endometrium sampai hari ke 12
setelah ovulasi
Terdapat 2 kelompok sel inner cells
mass yang disebut: ectoderm dan
endoderm
Pada bagian luar ECTODERM terdapat
kelompok sel yang dinamakan
trophoblast
Terdiri dari :
Cytotrophoblast
Syncytiotrophoblast
Fig 28-3

Periode : Gastrulation
Pembentukan

primitive streak pada permukaan ectode

Antara

ectoderm dan endoderm terdapat sel mesenchyme

yang berdiferensiasi menjadi mesoderm (intraembryonic
mesoderm)

Day 10-11: cells move inward

Will become:

Forms 3 layers:
Ectoderm
Mesoderm
Endoderm

Epidermis, CNS, sense

organs, neural crest
Skeleton, muscles,
Blood vessels, heart,
gonads
Lining of GI & air tracts,
liver, pancreas

Endoderm

Human Chorionic
Gonadotropin (HCG)

Pengeluaran hormon saat blastocytst by

the blastocyst

Stimulates corpus luteum to keep making

progesterone and estrogens

This maintains endometrium, prevents

menstruation

Can be detected by week 3 with a home

pregnancy test

KELAINAN

Abortus spontan
Implantasi yang
abnormal
Mola hydatidosa/
choriocarcinoma

PERKEMBANGAN EMBRIO
MINGGU KETIGA

Intra embryonic mesoderm meluas, bersatu

dengan extraembryonic mesoderm
Pembentukan villi dari trophoblast
Akhir minggu ke 3 mesoderm berdiferensiasi
menjadi pembuluh darah
villous capillary
system
Pembentukan neural plate
neural tube
Pembentukan neural crest dari ectoderm

Development: Neurulation
Week 3: the primary germ layers begin development
into body tissues and organs

By end of 3rd week, the embryo is ~ 2 mm long

Neurulation

Development of hollow nerve cord

Neural groove forms

paired
neural folds

pharyngeal
arches
somites

KELAINAN
Teratoma sacrococcygeal (sisa primitive streak
Neural tube defect (meningocele dll)

PERIODE FETAL
4th

week = organogenesis

Critical
Embryo

time in development

~ 5 mm

Second Month
Embryo ~ 25 mm
Great changes occur in
morphology

Limbs assume adult shape

Major internal organs
evident

Fetal
Three Months
Development
Development is essentially

complete (except for lungs &

brain)
From 3 months on the developing
human embryo is called a fetus
Second trimester
Fetus ~ 30 cm long (1 foot, by
end of 6th month) ~ 4 months

A time of growth!
Bone formation
Hair growth

Fetal Development

Third trimester
Weight ~ doubles
Major change is
great increase in
size

Most major nerve

tracts formed in brain
Nutrients from
mothers blood via
placenta
Placenta

Placental-Fetal circulation

Sesungguhnya kami (Allah) menciptakan manusia

dalam bentuk yang sebaik-baiknya
QS 95:4

TWIN

Normal Female: 46,XX

Normal Male: 46,XY

Autosomal Abnormalities

Trisomy 21
Down Syndrome 47,XY,+21

47, XX, 21+

Female with Down Syndrome

47, XY, 21+

Male with Down Syndrome

Trisomy 21
Major Clinical Features

mental retardation
slanted palpebral
fissures
epicanthal folds
small, round, flat face
small mouth, protruding
tongue
congenital heart
problems

Brushfield spots (iris)

small, hypoplastic
ears
simian creases
hypotonia, lax joints,
hyperextensive

Trisomy 13
Patau Syndrome 47,XY,13+

Trisomy 13
Major Clinical Features

mental retardation
growth retardation

microcephaly
cleft lip/palate

small jaw (micrognathia)

deformed, low-set ears

polydactyly
congenital heart
defects
rocker bottom feet
seizures
low birth weight

Trisomy 18
Edward Syndrome 47,XX,+18

Trisomy 18
Major Clinical Features

mental retardation
growth retardation
short neck
cleft lip/palate
dislocated
hips/abnormal
pelvis
deformed, low-set
ears

hypertonia
congenital heart
disease
horseshoe kidneys
hydronephrosis
short sternum
pyloric stenosis

Cri du chat Syndrome (5p-)

Cri du chat
Major Clinical Features

distinctive cat-like cry

profound
developmental
retardation
severe mental
retardation
microcephaly
hypotonia

hypertelorism
congenital heart
disease
round, moon-shaped
face
large mouth, short
philtrum
low set ears
hand and foot
abnormalities

HBD/CA/Se
Sexx Chromosome

Anomalies

General features:
Some growth retardation (GR)
Reproductive anomalies/problems
Good viability
Prenatally diagnosable
Associated with spontaneous abortion (Sab)

Sex Chromosome Anomalies

Monosomy X: Turners Syndrome (45, X)

Trisomy X: Triplo-X Syndrome (47, XXX)

Trisomy (47, XXY): Klinefelters Syndrome
Trisomy (47, XYY): XYY Syndrome

Turners Syndrome 45,X

Turners Syndrome
Major Clinical Features

female phenotype
short (less than 5 feet)
primary amenorrhea
low estrogen levels
maldevelopment of the
ovaries
sterility

webbing of the skin

of the neck
wide-spaced nipples
edema at birth
cardiovascular
problems

Klinefelters Syndrome 47,XXY

Klinefelters Syndrome
Major Clinical Features

small testes
aspermia
(little to no sperm production)
gynecomastia
long limbs
large hands & feet
retardation in some
fertility in some
social limitations in some