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Caused?
Factor genetic (warisan single-gene atau multifactorial
atau penyimpangan kromosom)
Factor lingkungan saat perkembangan embrionik maupun
fetal (penyakit maternal, infeksi, atau yg dikonsumsi selama
kehamilan)
PENTING!
genes on each chromosome are arranged in pairs and in
strict order, with each gene occupying a specific location
or locus.
The two members of a gene pair, one inherited from the
mother and the other from the father, are called alleles.
If the members of a gene pair are identical (i.e., code the
exact same gene product), the person is homozygous, and Autosomal dominant disorder? satu alel mutant tunggal dari
if the two members are different, the person is orangtua yang terkena dampak tertransmisi ke keturunan.
heterozygous. The genetic composition of a person is called Autosomal recessive disorder? Both members dari gen
a genotype, whereas the phenotype is the observable affected (terkena dampak). Dalam case ini, kedua parents
expression of a genotype in terms of morphologic, mungkin unaffected tapi carrier.
biochemical, or molecular traits. If the trait is expressed in
the heterozygote (one member of the gene pair codes for
the trait), it is said to be dominant. If it is expressed only in
the homozygote (both members of the gene pair code for
the trait), it is recessive.
Single-gene Disorder
Caused? Defective(cacat) atau mutant allele at a single
locus and follow mendelian patterns of inheritance.
Karakter? Pattern transmisinya itu biasanya diperoleh
through a family genetic history.
Impact? All single-gene disorder mengakibatkan
pembentukan protein abnormal atau penurunan produksi
produk gen.
Bisa juga mengakibatkan defective enzim atau penurunan
jumlah enzim, defect di reseptor protein dan fungsinya,
alterations in nonenzyme protein, ato mutasi yang
menghasilkan reaksi tidak biasa pada drugs.
X-Linked recessive disorder? Selalu berhubungan sama Numeric Disorders Involving Autosomes? Abnormal number
kromosom X dan pattern warisannya itu predominantly of kromosom disebut aneuploidy.
recessive. Makanya pada perempuan jarang timbul efek dari Caused? Kromosom gagal berpisah saat oogenis atau
kecacatan gen ini, berbanding terbalik sama cowo yang spermatogenesis. (monosomy,polysomy)
pasti kena dampaknya.
Fragile X syndrome? Is a single-gene disorder yang
menyebabkan disabilitas intelektual.
Terjadi lebih banyak di cowo daripada cewe.
Chromosomal Disorders
Impact? large proportion of reproductive wast- age (early
gestational abortions), congenital malformations, and
intellectual disability.
Radiation
Dosis besar dari radiasi pengion adalah teratogenic dan
mutagenic dan punya kapasitas untuk menyebabkan
perubahaan inheritable (bawaan) pada material genetic.
Cases ex.? Microcephaly, malformasi skeletal, mental
retardation
Infectious Agents
Mikroorganisme yang cross placenta and enter fetal
circulation. TORCH (toxoplasma, other, rubella,
cytomegalovirus, herpes) paling sering menyebabkan fetal
anomaly.
Selain itu bisa juga varicella-zoster, HIV, tbc, sifilis.
1. Genetic Assesment
genetic counseling involves accurate. diagnosis and
communication of the. findings and of the risks of
DISORDERS DUE TO ENVIRO INFLUENCES recurrence.
2. Prenatal Screening&Diagnosis
Periode Kerentanan The purpose of prenatal screening and diagnosis is not
Paling rentan saat organogenesis (15-60 day after just to detect fetal abnormalities but also to allay
konsepsi). anxiety and pro- vide assistance to prepare for a child
with a specific disability.
Agen Teratogenik There are multiple methods that can assist in
Chemical, physical, or biologic agent that produces diagnosing a fetus regarding genetic disorders,
abnormalities during embrionik atau fetal development. including ultrasonography, maternal serum (blood)
screening tests, amniocentesis, chorionic villus
sampling, and percutaneous umbilical fetal blood
sampling
STEP 1
Stillbirths: baby born with no signs of life at or after 28 weeks'
gestation. (From who)
MALFORMASI: suatu tipe anomali. Defect morfologik suatu organ
tau bag tubuh yg lebih besar, yg diakibatkan oleh kelainan process
perkembangan intrinsik. (Kamus dorland)
Dysplasia: kelainan perkembangan. Dlm patologi: perubahan
ukuran, bentuk dan susunan sel-sel devasa.
Deformation: dalam dismorfologi, suatu jenis defek struktural yg
ditandai dgn bentuk atau posisi yg abnormal dari suatu bag tubuh,
disebabkan o kekuatan mekanis yg tidak terputus2. Proses
mengadaptasi bentuk.
Disruption: defek morfologik yg diakibatkan o kerusakan extrinsic
atau ggn pd proses perkembangan.
Congenital: tjd saat lahir atau biasanya sblm lahir; merujuk pd
kondisi2 yg ditemukan saat lahir, tanpa memandang penyebab.
Pathogenesis: perkembangan keaadaan sakit ato penyakit; lbh
khusus lagi, rx dan peristirwa selular serta mekanisme patologis
yg tjd dalam perkembangan penyakit.
Vector: carrier, khususnya hewan yg nularin agen infektif; cloning,
molekul dna yg dpt membawa fragmen dna asing ke dlm sel hopses
dan nyipatain banyak copy.