title: 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.
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.
authors.affiliation: Institute of Human Genetics and Anthropology, Kollegiengasse 10, Jena, Germany.
authors.forename: Ina
authors.initials: I
authors.lastname: Fickelscher
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schulze
authors.forename: Günther
authors.initials: G
authors.lastname: Ernst
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Kay
authors.initials: K
authors.lastname: MacDermont
authors.forename: Neil
authors.initials: N
authors.lastname: Sebire
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D000782:Aneuploidy; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping
chemical_list: D005819:Genetic Markers