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Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. 1995
N B Spinner, and
K R Grace, and
N L Owens, and
L Sovinsky, and
J E Pellegrino, and
D McDonald-McGinn, and
E Zackai
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a specific chromosome region, we believe that FISH can be used to test markers in a guided, rather than random, fashion.
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