Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype

Thomas Liehr*, Rolf Dieter Wegner, Markus Stumm, Thomas Martin, Gabriele Gillessen-Kaesbach, Nadezda Kosyakova, Elisabeth Ewers, Ahmed Basheer Hamid, Ferdinand von Eggeling, Julia Hentschel, Monika Ziegler, Anja Weise

*Corresponding author for this work
4 Citations (Scopus)


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 (

Original languageEnglish
JournalJournal of the Chinese Medical Association
Issue number4
Pages (from-to)205-207
Number of pages3
Publication statusPublished - 01.04.2010

Research Areas and Centers

  • Research Area: Medical Genetics


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