A supernumerary marker chromosome originating from two different regions of chromosome 18
Benno Röthlisbergera, Krystyna Chrzanowskab, Damina Balmera, Mariluce Riegela, Albert Schinzela
a Institut für
Medizinische Genetik, Universität Zürich, Rämistrasse 74, CH-8001
Zürich, Switzerland, b The
Children's Memorial Health Institute, 04-36 Warsaw, Poland
Correspondence to: Dr Röthlisberger
Revised version received 2 September 1999;
Accepted for publication 23
September 1999
By random amplification of a microdissected chromosome using
the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra
structurally abnormal chromosome (ESAC) or supernumerary marker
chromosome in a mentally retarded girl with a pattern of dysmorphic
features. It could be clearly shown that the small marker chromosome
originates from two different regions of chromosome 18, 18p11.1
18q11.1 and 18q12.318q21.1 respectively. Maternal origin
of the de novo ESAC and biparental origin of the normal homologues of
chromosome 18 were shown by PCR of several highly polymorphic
microsatellites. In this case, application of microFISH was a
prerequisite for rapid and precise characterisation of an ESAC. A
definite identification of this discontinuous supernumerary marker
chromosome would not have been possible using FISH with centromere
specific probes or multicolour FISH approaches.
Keywords: supernumerary marker chromosome; microdissection; FISH; chromosome 18
© 2000 by J Med Genet
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