De novo duplication of 12pter-->p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting.
A 12.5-year-old male patient with a de novo derivative chromosome 22 is reported. A detailed description of the clinical features and comparison with the results of conventional cytogenetic banding methods indicated that the derivative chromosome might have been caused by a translocation between the short arms of chromosomes 12 and 22: der(22)t(12;22)(p12.1;p11.2). Fluorescence in situ hybridization with a chromosome 12-specific paint confirmed this supposition. The patient thus carries a pure duplication of 12pter-->p12.1. The phenotype of the patient described is compared to cases in the literature.
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Institut für Humangenetik, Universität Freiburg, Germany. humgen@sun1.ruf.uni-freiburg.de
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Schempp
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D000293:Adolescent; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019066:Facies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic