EMBRIOLOGI

UMUM
dr. Anung Putri Illahika.,M.Si
Laboratorium Anatomi
Fakultas Kedokteran
Universitas Muhammadiyah Malang
• Awalnya
manusia Haploid gametes (n = 23)

mempunyai
46 kromosom Egg cell haploid

(diploid)
Sperm cell haploid
• Proses MEIOSIS FERTILIZATION
Meiosis akan
mengurangi
jumlah sel Diploid
menjadi 23 zygote
(2n = 46)
kromosom Multicellular
diploid adults
(haploid) (2n = 46)

• Penyatuan ovum
Mitosis and
+ sperma akan development
menghasilkan
46 kromosom
GAMETOGENESIS

PEMBENTUKAN SEL
SEKS PRIA DAN
WANITA ATAU
SEL GAMET YANG
BERASAL DARI
GERM CELLS

OOGENESIS
TERJADI PADA
WANITA

SPERMATOGENESIS
TERJADI PADA PRIA
Testis and Formation of Sperm

2n

2n

n
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 ½ dari
jumlah DNA sel somatis (meiosis 2)
 MEIOSIS I: Homologous chromosomes separate

INTERPHASE PROPHASE I METAPHASE I ANAPHASE I

Centrosomes Microtubules
Sites of crossing over Metaphase Sister chromatids
(with attached to
plate remain attached
centriole Spindle kinetochore
pairs)

Nuclear Chromatin Sister Tetrad Centromere Homologous

envelope chromatids (with kinetochore) chromosomes separate

Figure 8.14, part 1

 MEIOSIS II: Sister chromatids separate

TELOPHASE I TELOPHASE II
PROPHASE II METAPHASE II ANAPHASE II
AND CYTOKINESIS AND CYTOKINESIS

Cleavage
furrow

Sister Haploid
chromatids daughter cells
separate forming

Figure 8.14, part 2

 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 non-
disjoining

•trisomy of chromosome number 21

non- (1 in 700 births)—mental retardation,
disjoining 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)
 Sex Chromosome Aneuploidy
Situation Oocyte Sperm Consequence
Normal X Y 46, XY normal male
X X 46, XX normal female
Female XX Y 47, XXY Klinefelter syndrome
Nondisjunction XX X 47, XXX triplo-X
Y 45, Y nonviable
X 45, X Turner syndrome
Male X 45, X Turner syndrome
Nondisjunction X XX 47, XXX triplo-X
(meiosis I)
Male X YY 47, XYY Jacobs syndrome
nondisjunction X 45, X Turner syndrome
(meiosis II)
 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

A B
 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 Fetal
development development

fertilization - 8 weeks 9 weeks - birth

time period from fertilization to birth = gestation

Postnatal Development
 Development Overview
Eggs form and mature in female
reproductive organs, and sperm Gamete formation
form and mature in male frog egg
reproductive organs.

A sperm and an egg fuse at their

plasma membrane, then the nucleus
of one fuses with the nucleus of the Fertilization
other to form the zygote. frog sperm

By a series of mitotic cell divisions,

Morula
different daughter cells receive Cleavage Blastocy
different regions of the egg
cytoplasm. st
Implanta
Cell divisions, migrations, and
rearrangements produce two or
tion
Gastrulation
three primary tissues, the
forerunners of specialized tissues
and organs.
midsectional views
Subpopulations of cells are
sculpted into specialized organs
Neurulation
Organ formation
and tissues in prescribed spatial
patterns at prescribed times.
top view side view
Growth, tissue
Organs increase in size and specialization
gradually assume specialized
functions.
 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
 Cleavage
Early division of zygote into multiple cells
without increase in size, partitions
contents
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

Pada periode ini mulai terbentuk amniotic

cavity
Fig 28-3
 Periode : Gastrulation
►Pembentukan primitive streak pada permukaan ectoderm
►Antara ectoderm dan endoderm terdapat sel mesenchyme yang
berdiferensiasi menjadi mesoderm (intraembryonic mesoderm)

Day 10-11: cells move inward

Will become:

Forms 3 layers: Epidermis, CNS, sense

organs, neural crest
• Ectoderm Skeleton, muscles,
• Mesoderm Blood vessels, heart,
• Endoderm 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 time in development
►Embryo ~ 5 mm

 Second Month
 Embryo ~ 25 mm
 Great changes occur in
morphology
 Limbs assume adult shape
 Major internal organs
evident
 Fetal
• Development
Three Months
• 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
mother’s 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 • Brushfield spots (iris)
• slanted palpebral • small, hypoplastic
fissures
ears
• epicanthal folds
• small, round, flat face
• simian creases
• small mouth, protruding • hypotonia, lax joints,
tongue hyperextensive
• congenital heart
problems
 Trisomy 13
Patau Syndrome 47,XY,13+
 Trisomy 13
Major Clinical Features

• mental retardation • polydactyly

• growth retardation • congenital heart
• microcephaly defects
• cleft lip/palate • rocker bottom feet
• small jaw (micrognathia)
• deformed, low-set ears
• seizures
• low birth weight
 Trisomy 18
Edward’ Syndrome 47,XX,+18
 Trisomy 18
Major Clinical Features

• mental retardation • hypertonia

• growth retardation
• congenital heart
disease
• short neck • horseshoe kidneys
• cleft lip/palate • hydronephrosis
• dislocated • short sternum
hips/abnormal • pyloric stenosis
pelvis
• deformed, low-set
ears
Cri du chat Syndrome (5p-)
 Cri du chat
Major Clinical Features

• distinctive cat-like • hypertelorism

cry • congenital heart
• profound disease
developmental • round, moon-shaped
retardation face
• severe mental • large mouth, short
retardation philtrum
• microcephaly • low set ears
• hypotonia • hand and foot
abnormalities
 HBD/CA/Sex
Sex 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: Turner’s Syndrome (45, X)

 Trisomy X: Triplo-X Syndrome (47, XXX)
 Trisomy (47, XXY): Klinefelter’s Syndrome
 Trisomy (47, XYY): XYY Syndrome
Turner’s Syndrome 45,X
 Turner’s Syndrome
Major Clinical Features

• female phenotype • webbing of the skin

• short (less than 5 feet)
• primary amenorrhea
• low estrogen levels
• maldevelopment of the
ovaries
• sterility
of the neck
• wide-spaced nipples
• edema at birth
• cardiovascular
problems
Klinefelter’s Syndrome 47,XXY
 Klinefelter’s 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