Article
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.
Human genetics - 1 May 1996
Eggermann T, Engels H, Moskalonek B, Nöthen M M, Müller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S
Abstract excerpt
We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 18p, analyzed by a straightforward combination of cytogenetic and molecular cytogenetic methods. The diagnostic procedure consisted of standard banding techniques and fluorescence in situ hybridization (FISH) with centromere and library DNA probes for chromosome 18, and 18p-specific FISH probes prepared by chromosome dissesction and in...
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