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Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay
Author(s) -
Aalfs Cora M.,
Jacobs Marja E.,
NiesteOtter Marlëlle A.,
Hennekam Raoul C. M.,
Hoovers Jan M. N.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04323.x
Subject(s) - small supernumerary marker chromosome , marker chromosome , supernumerary , fluorescence in situ hybridization , karyotype , biology , genetics , chromosome , x chromosome , in situ hybridization , aneuploidy , microbiology and biotechnology , anatomy , gene , gene expression
We report on a boy with two supernumerary marker chromosomes which were identified by fluorescence in situ hybridization and derived from chromosome 6 and 9. In lymphocytes, a mosaic karyotype was found: 46,XY (17%)/47,XY,r(6) (24%)/47,XY,r(9) (20%)/48,XY,r(6),r(9) (39%). Only minor dysmorphic features and mild developmental delay were present. Despite extensive fluorescence in situ hybridization studies using a large panel of probes, we were unable to characterize the marker chromosomes in more detail, mainly because no probes for the chromosome regions involved were available to us. In order to reach a better understanding of the clinical relevance of small supernumerary marker chromosomes, it will be necessary to create a widely available set of probes, covering all chromosome regions.