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Human Birth Defects
陳建榮
http://web.nchu.edu.tw/pweb/index2.php?pid=75
Cogenital anomaly 先天性畸形Teratology 畸胎學
Cause of human congenital anomaliesChromosome 染色体異常 7% – 8%Gene 基因突變 6%– 7%Multifactorial inheritance 多重因子遺傳 7% –10%Environmental agents 環境因素 20%–25%Unknown 未知病因 50%–60%
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Monosomy X chromosome-Trisomy of sex chromosomes (tabel 8-2)
-XXX-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Monosomy X chromosome-Trisomy of sex chromosomes (tabel 8-2)
-XXX-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
Down syndrome (table8-1)1. Incidence = 1:8002. Chromosome 213. Incidence & maternal age (table 8-2)
Edwards syndrom (table8-1)1. Incidence = 1:80002. Chromosome 18
Patau syndrom (table8-1)1. Incidence = 1:250002. Chromosome 13
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Monosomy X chromosome-Turner syndrome (X,45)
-Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960)-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
Turner syndrome (table8-1)1. Incidence =1:8000
Turner syndrome
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Monosomy X chromosome-Trisomy of sex chromosomes (tabel 8-2)
-XXX (female, 1:960)-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
Klinefelter syndrom (XXY) (table 8-3)1. Male 2. Incidence 1:10803. Small testes, hyalinization of seminiferous tubules (aspermatogenesis)
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Down syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960)-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
Triploidy
Structural chromosome abnormalities:-Translocation 移位-Deletion 削除-Duplications 複製 -Inversion 反轉-Isochromosomes 同染色體
Structural chromosome abnormalities
Reciprocal translocationTerminal deletion
Ring chromosome
Duplication
Isochromosome
Paracentric inversion
Robertsonian translocation
Cri du chat syndrome 貓叫症候群
Anomalies caused by genetic factors:-Numerical chromosome abnormalities
-Trisomy of autosomes (table 8-1) -Turner syndrom (trisomy of chromosones 21)-Edwards syndrom (trisomy of chromosones 18)-Patau syndrom (trisomy of chromosones 13)
-Trisomy of sex chromosomes (tabel 8-2) -XXX (female, 1:960)-XXY-XYY
-Terasomy and pentasomy-XXXX, XXXXX, XXXY, XXYY, XXXYY, XXXXY
-Triploidy or tetraploidy-Structural chromosome abnormalities
-Mutant genes
Achondroplasia 軟骨發育不全(Fibroblast)
先天性成骨不全ALD 腎上腺腦白質退化不良症
-X chromosome
Anomalies caused by enviromental factors-Teratogens 致畸原 (table 8-6)-Critical period of human development-Dosage of the drug or chemical -Genotype of the embryo
Critical period of human development
Environmental factors-Drugs
-Alcohol-Isotretinoin (13-cis-retinoic acid)-Lithium-Phenytoin-Thalidomide-Warfarin
-Chemicals-Methylmercury (Minamata bay disease)-PCB (polychlorinated biphenyls)
-Infection-CMV, HSV, HIV, Parvovirus B19, Rubella, Varicella, Toxoplasmosis, Syphilis
-Radiation (vs Electromagnetic field, Ultrasound)-* > 25000 millirads: harmful to CNS-* diagnostic level: no conclusive proof-chest 1 millirad-pelvis 0.3 – 2 rad-* upper limit of maternal exposure 500 millirad-* embryo exposure < 5rad: minuscule
-Maternal factor-DM, PKU
-Mechanical factors
Fetal alcohol syndrome (FAS) 胎兒酒精症侯群
Masculinized external genitalia 外生殖器男性化
Anticonvulsants 抗痙攣藥-Trimethadione-Phenytoin
Hydantoin syndrome
Tranquilizers 鎭靜劑-Thalidomide
抗生素抗凝血劑 止吐藥抗腫瘤藥皮質類固醇鉀鹽…… ..
Rubilla 德國麻疹
Toxoplasmosis 弓漿蟲
Body cavity, Mesenteries, and
Diaphragm陳建榮
Intraembryonic mesodermExtraembryonic mesoderm
E21 day
胸壁、腹壁
Dorsal mesentery背側腸系膜
Dorsal mesentery:-Intraembryonic mesoderm-Extraembryonic mesoderm
Embryonic folding
Mesenteries:-Derived from intra- and extra-embryonic mesoderm
-Dorsal mesentery-Foregut, midgut, hindgut-greater omentum, mesentery, mesocolon…
-Ventral mesentery-Foregut -Lessor omentum, falciform lig., coronary lig….
Division of embryonic body cavity
Embryonic cavities:-Pleura cavity-Pericardial cavity-Peritoneal cavity
心包腹膜管
橫中膈
E33 day
Pleura and pericardial cavities formation
胸膜心包褶
胸膜心包膜
纖維性心包膜
Diaphragm formation
Diaphragm
E24 day E41 day E52 day
Cogenical diaphragmatic hernia 先天性橫膈疝氣
PolyhydramnionsLeft-side defects
Eventration of diaphragm 橫膈上升