https://scholars.lib.ntu.edu.tw/handle/123456789/597164
標題: | Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism | 作者: | LI-HUI TSENG Chuang S.-M. Lee T.-Y. TSANG-MING KO |
關鍵字: | DNA polymorphism analysis; Mosaicism; Trisomy 21 | 公開日期: | 1994 | 出版社: | Springer-Verlag | 卷: | 255 | 期: | 4 | 起(迄)頁: | 213-216 | 來源出版物: | Archives of Gynecology and Obstetrics | 摘要: | A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p] ? 1994 Springer-Verlag. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0028555884&doi=10.1007%2fBF02335088&partnerID=40&md5=adf6e70341eed6e23394882d18ea163d https://scholars.lib.ntu.edu.tw/handle/123456789/597164 |
ISSN: | 0932-0067 | DOI: | 10.1007/BF02335088 | SDG/關鍵字: | adult; article; blood; blood analysis; clinical article; cytogenetics; dna polymorphism; down syndrome; female; human; karyotype; male; mosaicism; oocyte; ovary; recurrent disease; trisomy 21; Adult; Case Report; Down Syndrome; Female; Human; Mosaicism; Oogonia; Ovary; Polymorphism (Genetics) |
顯示於: | 基因體暨蛋白體醫學研究所 |
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