title: Uncommon chromosomal mosaicism in chorionic villi.
abstract: Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+ mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.
authors.affiliation: Abteilung Klinische Genetik der Universität, Ulm, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: G
authors.initials: G
authors.lastname: Barbi
authors.forename: M
authors.initials: M
authors.lastname: Djalali
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: W
authors.initials: W
authors.lastname: Vogel
authors.forename: R
authors.initials: R
authors.lastname: Terinde
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D016172:DNA Fingerprinting; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D011123:Polyploidy; D011247:Pregnancy
chemical_list: D005819:Genetic Markers