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Original Articles
- Molecular Cloning of Novel Genes Related to the Craniofacial Development of Human Embryo.
- Young Jun Lee, Tak Soo Go, Hyung Wook Han, Sang Shin Lee, Eun Cheol Kim, Yeon Sook Kim, Suk Keun Lee, Je G Chi
- Korean J Pathol. 2000;34(12):961-971.
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Abstract
PDF - In order to obtain novel genes for craniofacial development of human, molecular cloning and sequencing were performed and followed by in situ hybridization in tissue sections. Subtracted cDNA library of craniofacial tissue from 8 weeks old human embryo was made by the subtraction with cDNA of RHEK cells. A total of 231 clones were obtained and their partial sequence data disclosed that 214 clones were nonredundant in Genebank search. We have done in situ hybridization screening on the craniofacial sections of a 10 weeks old human fetus, and found significant positive reaction in 30 clones. Depending on the cell type of similar developmental origin, the positive reactions could be divided into four groups: first group showed an intense positive reaction in neural tube, ganglion, and a part of peripheral nerve tissue, second group relatively diffuse positive reaction in neural tube, cartilage, epithelium, and muscle, third group localized positive reaction in nerve, and muscle, and fourth group positive reaction in almost all kinds of cells of craniofacial tissues. Although every clone showed different expression patterns in the craniofacial development, some of them showed intense mRNA expressions in the characteristic cell type. Because this study also aimed to test a screening methods to find out novel genes related to craniofacial development by the subtracted cDNA library and in situ hybridization, the intense positive reaction of a certain clone by in situ hybridization may indicate its role in the developmental processes. We presumed that 30 clones selected in this study are possibly important new genes for the development of human craniofacial structure.
- Craniofacial Morphogenesis of Mouse with Trisomy 16.
- Jung Sun Kim, Jeong Wook Seo, Suk Wha Kim, Je G Chi
- Korean J Pathol. 1994;28(6):596-604.
- 1,804 View
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Abstract
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- Based on the genetic homology between mouse chromosome 16 and human chromosome 21, experimentally induced trisomy 16 mouse has been considered to serve as a suitable model for human Down syndrome. Mice with trisomy 16 express several phenotypic characteristics of human trisomy 21 syndrome; i.e., intrauterine growth retardation, anarsarca, congenital heart disease, brain abnormality, etc. To elucidate morphogenesis of characteristic craniofacial malformation in human Down syndrome, we studied trisomy 16 mouse fetuses that were produced by crossing karyotypically normal C57BL/6 female ice with males carrying the two Robertsonian translocation chromosome Rb(16.17)/Rb(11.16). We examined a series of trisomy 16 conecptuses and their normal littermate controls from day 14 to day 18 of gestation by gross observation and serial microscopic sections. In addition to smaller size and generalized edema, we observed variable, but definite delay in brain and craniofacial development in trisomy 16 mice. The brain revealed less stratified telencephalon, underdeveloped thalamus and hypothalmus with relatively wide third ventricle, and small rhombencephalon. Craniofacial underdevelopment was characterized by persistent open eye, cochlea with fewer turns, delayed closure of the palate, more simple nasal cavity, etc. The tongue was shorter and convex upward, that were especially prominent at 14 days of gestation. The convex tongue and underdeveloped brain made the cranial base convex upward, and the angle between the cranial base an vertebral axis more obtuse. Small head with increase cephalic index and midfacial hypoplasia appeared to account for brain underdevelopment.
Case Report
- Amniotic Band Syndrome: An autopsy case report.
- Hye Seon Ahn, Gil Ro Han, Jin Hee Sohn, Jung Il Suh
- Korean J Pathol. 1989;23(4):482-486.
- 1,627 View
- 16 Download
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Abstract
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- We report an autopsy case of amniotic band syndrome exhibiting microcephaly, asymmetric encephalocele, microphthalmia, nasal deformity, cleft lip and palate accompanied by left maxillary and zygomatic bone deformities. The amniotic membrane of the placenta was also attached to the herniated brain. The twenty-year-old primigravid mother had no history of taking drug, irradiation, infection or trauma before or during pregnancy.
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