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| 題 名 | Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype=第一號染色體有小型超數標記染色體卻伴隨正常臨床表現 |
|---|---|
| 作 者 | Liehr, Thomas; Wegner, Rolf-Dieter; Stumm, Markus; Martin, Thomas; Gillessen-Kaesbach, Gabriele; Kosyakova, Nadezda; Ewers, Elisabeth; Hamid, Ahmed Basheer; Eggeling, Ferdinand von; Hentschel, Julia; Ziegler, Monika; Weise, Anja; | 書刊名 | Journal of the Chinese Medical Association |
| 卷 期 | 73:4 2010.04[民99.04] |
| 頁 次 | 頁205-207+CA34 |
| 關鍵詞 | 第一號染色體; 基因型和表現型的相關性; 分子細胞遺傳學; 小型超數標記染色體; 單親二體症; Chromosome 1; Genotype–phenotype correlation; Molecular cytogenetics; Small supernumerary marker; Chromosomes(sSMCs); Uniparental disomy; |
| 語 文 | 英文(English) |
| 英文摘要 | Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over twothirds of cases carrying an sSMC derived from chromosome 1 are associated with clinical abnormalities. We report 3 further cases of such sSMCs that did not show any clinical abnormalities. All 3 sSMCs studied were detected prenatally and characterized comprehensively for their genetic content by molecular cytogenetics using subcentromere-specific multicolor fluorescence in situ hybridization, and for a possibly associated uniparental disomy. After exclusion of additional euchromatin due to the presence of sSMCs and a uniparental disomy, parents opted for continuation of the pregnancies and healthy children were born in all 3 cases. It is important to quickly and clearly characterize prenatal sSMCs. Also, all available sSMC cases need to be collected on a homepage such as the Jena Institute of Human Genetics and Anthropology sSMC homepage (http://www.med.uni-jena.de/fish/sSMC/00START.htm). |
本系統中英文摘要資訊取自各篇刊載內容。