Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
Dieter Kotzota, Maria-Jose Martineza, Gulseren Bagcib, Seher Basaranc, Alessandra Baumera, Franz Binkerta, Lucrecja Brecevica, Claudio Castelland, Krystyna Chrzanowskae, Fabrizio Dutlya, Anna Gutkowskae, Sibel Berker Karaüzümb, Malgorzata Krajewska-Walaseke, Guven Lulecib, Peter Minyf, Mariluce Riegela, Simone Schuffenhauerg, Heide Seidelg, Albert Schinzela
a Institute for
Medical Genetics, University of Zürich, Zürich, Switzerland, b Department of Medical Biology and Genetics,
Akdeniz University, Antalya, Turkey, c Department of
Pediatrics, University of Istanbul, Istanbul, Turkey, d Genetic
Counselling Service, Bozen, Italy, e The Children's Memorial Health Institute,
Warsaw, Poland, f Department of Medical
Genetics, Children's Hospital Basel, Basel, Switzerland and Aristogen
GmbH, Ingelheim, Germany, g Department of Medical Genetics, Children's
Hospital, Ludwig Maximilian University München, Germany
Correspondence to: Dr Kotzot, Institut für Medizinische Genetik, Universität Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland. Kotzot{at}medgen.unizh.ch
Revised version received 30 November 1999;
Accepted for publication 8
December 1999
Cytogenetic, FISH, and molecular results of 20 cases with de
novo tandem duplications of 18 different autosomal chromosome segments
are reported. There were 12 cases with direct duplications, three cases
with inverted duplications, and five in whom determination of direction
was not possible. In seven cases a rearrangement between non-sister
chromatids (N-SCR) was found, whereas in the remaining 13 cases sister
chromatids (SCR) were involved. Paternal and maternal origin (7:7) was
found almost equally in cases with SCR (3:4) and N-SCR (4:3). In the
cases with proven inversion, there was maternal and paternal origin in
one case each. Twenty three out of 43 cytogenetically determined
breakpoints correlated with common or rare fragile sites. In five
cases, including all those with proven inverse orientation, all
breakpoints corresponded to common or rare fragile sites. In at least
two cases, one with an interstitial duplication (dup(19)(q11q13)) and
one with a terminal duplication (dup(8) (p10p23)), concomitant
deletions (del(8) (p23p23.3) and del(19)(q13q13)) were found.
Keywords: direct duplication; inverted duplication; parental origin; tandem duplication
© 2000 by J Med Genet
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