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  • Title: 10p duplication characterized by fluorescence in situ hybridization.
    Author: Wiktor A, Feldman GL, Kratkoczki P, Ditmars DM, Van Dyke DL.
    Journal: Am J Med Genet; 1994 Sep 01; 52(3):315-8. PubMed ID: 7528972.
    Abstract:
    We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.
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