Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype

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• 作者：Thomas Liehr ; Rolf-Dieter Wegner ; Markus Stumm ; Thomas Martin ; Gabriele Gillessen-Kaesbach ; Nadezda Kosyakova ; Elisabeth Ewers ; Ahmed Basheer Hamid ; Ferdin ; von Eggeling ; Julia Hentschel ; Monika Ziegl
• 关键词：chromosome 1 ; genotype– ; phenotype correlation ; molecular cytogenetics ; small supernumerary marker chromosomes (sSMCs) ; uniparental disomy
• 刊名：Journal of the Chinese Medical Association
• 出版年：2010
• 出版时间：April 2010
• 年：2010
• 卷：73
• 期：4
• 页码：205-207
• 全文大小：237 K

文摘

Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over two-thirds 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).