Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
Pawel Stankiewicza, Ewa Bociana, Krystyna Jakubów-Durskaa, Ewa Obersztyna, Ewa Latoa, Heike Starkeb, Katarzyna Mroczekc, Tadeusz Mazurczaka
a Department of
Genetics, National Research Institute of Mother and Child, Kasprzaka
17A, 01-211 Warsaw, Poland, b Institute of Human Genetics and
Anthropology, University of Jena, Jena, Germany, c Department of Genetics, University of Warsaw,
and Institute of Biochemistry and Biophysics, Polish Academy of
Sciences, Warsaw, Poland
Correspondence to: Dr Bocian
Revised version received 2 June 1999;
Accepted for publication 10 September
1999
A large number of cases with supernumerary marker chromosomes
(SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and
unique sequence probes, as well as forward and reverse painting. We
also report the first case, to the best of our knowledge, of an SMC
derived from chromosome 5. Furthermore, a marker chromosome 20 in a
patient with sex differentiation abnormalities, a double mar(6) in a
boy with psychomotor retardation, and the association of r(19) with
dup(21q21.2q22.12) are described. Although the mar(6) was very small,
the presence of euchromatin was shown, suggesting that the partial
trisomy of pericentric region derived sequences is implicated in the
aetiology of the abnormal phenotypes.
Keywords: supernumerary marker chromosomes; fluorescence in situ hybridisation; phenotype-genotype correlation
© 2000 by J Med Genet
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