A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1—evidence for high variability in mosaicism in different tissues of sSMC carriers |
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| Authors: | Ina Fickelscher Heike Starke Eberhard Schulze Günther Ernst Nadezda Kosyakova Hasmik Mkrtchyan Kay MacDermont Neil Sebire Thomas Liehr |
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| Institution: | 1. Institute of Human Genetics and Anthropology, Kollegiengasse 10, Jena, Germany;2. Institute of Pathology, Ziegelmühlenweg 1, Jena, Germany;3. The North West London Hospital, NHS Trust, Harrow, Middlesex, United Kingdom, UK;4. Paediatric Pathology, Great Ormond Street Hospital for Children, Great Ormond Street, London, United Kingdom, UK |
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| Abstract: | A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome 1 is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(1). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established. Copyright © 2007 John Wiley & Sons, Ltd. |
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| Keywords: | small supernumerary marker chromosome (sSMC) mosaicism molecular cytogenetics interphase FISH |
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