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 i s reported. A detailed description of the clinical features and compar ison with the results of conventional cytogenetic banding methods indi cated that the derivative chromosome might have been caused by a trans location between the short arms of chromosomes 12 and 22: der(22)t(12; 22) (p12.1;p11.2). Fluorescence in situ hybridization with a chromosom e 12-specific paint confirmed this supposition. The patient thus carri es a pure duplication of 12pter-->p12.1. The phenotype of the patient described is compared to cases in the literature.