中國醫藥大學機構典藏 China Medical University Repository, Taiwan:Item 310903500/29892
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    题名: A modified cell culture method for autologous chondrocyte transplantation
    作者: Lee, CY;Liu, XH;Hsu, HC;Wang, DY;Luo, ZP
    贡献者: 附設醫院骨科部;Baylor Coll Med, Dept Orthoped Surg, Houston, TX 77030 USA;Baylor Coll Med, Dept Orthopaed Surg, Houston, TX 77030 USA;China Med Univ Hosp, Dept Orthopaed Surg, Taichung, Taiwan
    日期: 2005
    上传时间: 2010-09-24 14:44:54 (UTC+8)
    出版者: TAYLOR & FRANCIS LTD
    摘要: Objectives To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3 -> qter) and partial trisomy 18q (18q23 -> qter). Conclusions The present case provides evidence that partial monosomy 10q (10q25.3 -> qter) with partial trisomy 18q (18q23 -> qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright (c) 2005 John Wiley & Sons, Ltd.
    關聯: CONNECTIVE TISSUE RESEARCH 46(2):93-99
    显示于类别:[台中附設醫院] 期刊論文

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