1 / 50

Human Birth Defects

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 anomalies Chromosome 染色体異常 7% – 8% Gene 基因突變 6% – 7% Multifactorial inheritance 多重因子遺傳 7% – 10%

Download Presentation

Human Birth Defects

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Human Birth Defects 陳建榮 http://web.nchu.edu.tw/pweb/index2.php?pid=75

  2. Cogenital anomaly先天性畸形 Teratology 畸胎學

  3. Cause of human congenital anomalies Chromosome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%

  4. 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

  5. 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

  6. Down syndrome (table8-1) 1. Incidence = 1:800 2. Chromosome 21 3. Incidence & maternal age (table 8-2)

  7. Edwards syndrom (table8-1) • Incidence = 1:8000 • Chromosome 18

  8. Patau syndrom (table8-1) • Incidence = 1:25000 • Chromosome 13

  9. 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

  10. Turner syndrome (table8-1) • Incidence =1:8000

  11. Turner syndrome

  12. 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

  13. Klinefelter syndrom (XXY) (table 8-3) • Male • Incidence 1:1080 • Small testes, hyalinization of seminiferous tubules (aspermatogenesis)

  14. 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

  15. Triploidy

  16. Structural chromosome abnormalities: • Translocation移位 • Deletion削除 • Duplications複製 • Inversion反轉 • Isochromosomes同染色體

  17. Structural chromosome abnormalities Terminal deletion Reciprocal translocation Ring chromosome Paracentric inversion Duplication Robertsonian translocation Isochromosome

  18. Cri du chat syndrome貓叫症候群

  19. 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

  20. 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

  21. 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

  22. Critical period of human development

  23. 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

  24. Fetal alcohol syndrome (FAS) 胎兒酒精症侯群

  25. Masculinized external genitalia外生殖器男性化

  26. Hydantoin syndrome • Anticonvulsants 抗痙攣藥 • Trimethadione • Phenytoin

  27. 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……..

  28. Rubilla 德國麻疹

  29. Toxoplasmosis 弓漿蟲

  30. Body cavity, Mesenteries, and Diaphragm 陳建榮

  31. E21 day Intraembryonic mesoderm Extraembryonic mesoderm

  32. 胸壁、腹壁 Dorsal mesentery 背側腸系膜 • Dorsal mesentery: • Intraembryonic mesoderm • Extraembryonic mesoderm

  33. Embryonic folding

  34. 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….

  35. Division of embryonic body cavity 心包腹膜管 橫中膈 • Embryonic cavities: • Pleura cavity • Pericardial cavity • Peritoneal cavity

  36. E33 day

  37. Pleura and pericardial cavities formation 胸膜心包褶 胸膜心包膜 纖維性心包膜

  38. Diaphragm formation

  39. Diaphragm

  40. E24 day E41 day E52 day

  41. Cogenical diaphragmatic hernia先天性橫膈疝氣 Polyhydramnions Left-side defects

  42. Eventration of diaphragm橫膈上升

More Related