Abstract for presentation at 11th International Congress of Human Genetics

Mosaic tetrasomy 18p: Studies of parent and cell division of origin, prenatal and postnatal findings in 3 carriers

  • Dagmar Hansmann, Institute of Prenatal Diagnosis and Genetic Counselling, Bonn-Meckenheim, Germany
  • Manfred Hansmann, Institute of Prenatal Diagnosis and Genetic Counselling, Bonn-Meckenheim, Germany
  • Thomas Eggermann, Insitute of Human Genetics, University Aachen, Germany
  • Henning Weiss, Units of Prenatal Diagnosis and Therapy, University Bonn, Germany
  • Ulrich Gembruch, Units of Prenatal Diagnosis and Therapy, University Bonn, Germany

    • Supernumerary isochromosome 18p usually arises de novo in the carrier and is often combined as a mosaic with a normal cell line. Until now, it can’t be delineated which cell system or even germ layer preferentially carries the aneuploid karyotype.
    We had the opportunity to investigate prenatally in 3 foetuses different somatic cell systems after direct preparation of mitoses and after short and long term cell culture. The cells analysed originated from all 3 germ layers and from extra foetal tissues.
    The development of embryo and foetuses was documented in detail to get more information on this rare chromosome aberration. The mosaic development was followed up and molecular investigations were performed to delineate the origin of the isochromosomes by micro-satellite typing.
    Our results were compared to findings from the literature.

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