EMBRIOLOGI UMUM

Dr. Thontowi Djauhari NS, MKes Laboratorium Anatomi Program Pendidikan Dokter Universitas Muhammadiyah Malang

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 SPERMATOGENESIS 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)

PROPHASE I

METAPHASE I
Metaphase plate

ANAPHASE I
Sister chromatids remain attached

Sites of crossing over

Microtubules attached to Spindle kinetochore

Nuclear envelope

Chromatin

Sister chromatids

Tetrad

Centromere (with kinetochore)

Homologous chromosomes separate

Figure 8.14, part 1

MEIOSIS II: Sister chromatids separate TELOPHASE I AND CYTOKINESIS PROPHASE II METAPHASE II ANAPHASE II TELOPHASE II AND CYTOKINESIS

Cleavage furrow

Sister chromatids separate

Haploid daughter cells 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

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)

Sex Chromosome Aneuploidy

Situation Normal Female Nondisjunction Oocyte X X XX XX Sperm Y X Y X Consequence 46, XY normal male 46, XX normal female 47, XXY Klinefelter syndrome 47, XXX triplo-X

Y
X Male Nondisjunction (meiosis I) Male nondisjunction (meiosis II) X X X X XX YY

45, Y nonviable
45, X Turner syndrome 45, X Turner syndrome 47, XXX triplo-X 47, XYY Jacobs 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. Gamete formation frog egg 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.

Fertilization

frog sperm

By a series of mitotic cell divisions, different daughter cells receive different regions of the egg cytoplasm.

Cleavage

Cell divisions, migrations, and rearrangements produce two or three primary tissues, the forerunners of specialized tissues and organs.

Gastrulation

Morula Blastocy st Implanta tion

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

Neurulation Organ formation

top view side view

Organs increase in size and gradually assume specialized functions.

Growth, tissue specialization

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

Fig 28-3

cavity

Periode : Gastrulation
Pembentukan
Antara

primitive streak pada permukaan ectoderm

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
time in development
~ 5 mm

Critical
Embryo

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 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

Patau Syndrome 47,XY,13+

Trisomy 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

Edward Syndrome 47,XX,+18

Trisomy 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

Sex Chromosome Anomalies

HBD/CA/Sex

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