The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 6
A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
Department of Medical Genetics, İstanbul University İstanbul Faculty of Medicine, İstanbul, Turkey We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself.

This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed. Keywords : polysyndactyly, dysmorphism/psychomotor retardation, complex chromosomal rearrangements, fluorescence in situ hybridization.

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