• Title/Summary/Keyword: Molecular rearrangement

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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22 (산전 진단에서 관찰된 8번과 22번 염색체 사이의 미세 전좌에 의한 8번 염색체 단완 위성체)

  • Oh, Ah-Rum;Lee, Bom-Yee;Choi, Ene-Yuong;Ryu, Hyun-Mee;Lee, Seung-Jae;Jung, Ji-Ye;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.135-138
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    • 2011
  • The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

Structure and Metallothionein Expression during Rat Liver Regeneration Induced by Partial Hepatectomy (흰쥐 부분 간 절제 후 재생 중인 간 조직의 구조와 metallothionein 분포)

  • Mun, Seung-Hoon;Jeong, Jin-Joo;Lee, Yong-Moon;Shin, Kil-Sang;Kim, Wan-Jong
    • Applied Microscopy
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    • v.38 no.3
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    • pp.175-183
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    • 2008
  • Liver regeneration is a result of highly coordinated proliferation of hepatocytes and non-parenchymal liver cells. At this process, induction of metallothionein (MT), which is low molecular and cysteine rich, has been reported. The present study was carried to find the ultrastructure of hepatocytes and determine the expression of MT in regenerating rat liver after partial hepatectomy. As a result, the remnant liver after PH grew fast from 1 day until 7 days. Various changes were morphologically observed. Disintegration of cell plates and liver lobule appeared shortly after PH. And hepatocytes showed the rapid proliferation, characterized by high nuclear cytoplasmic ratio, weak intercellular junctional complexes, chromatin condensation, increase of ribosomes and mitochondria, and temporary increase of lipid droplets. Finally, remodeling of the liver lobule was completed through the rearrangement of blood vessels and cell plates by 7 days after PH. On histochemistry, immunoreactivity indicating the presence of MT appeared moderately throughout the cytoplasm of control rat hepatocyte. After PH, positive reactions for MT increased at the cytoplasm and the nucleus. These results suggest that the remnant liver cells immediately entered cell proliferation and increase of MT expression after PH. It is thought that MT protein might be associated with transfer of some factors needed to cell division from the cytoplasm to the nucleus for regeneration of the liver after PH.