Article
De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2006
Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray J Y, Geneix A, Vago P
Abstract excerpt
Congenital Complex Chromosome rearrangements (CCRs) compatible with life are rare in humans. We report a de novo CCR involving chromosomes 8, 11 and 16 with 4 breakpoints in a patient with mild dysmorphic features, acquisition delay and psychotic disorder. Conventional cytogenetic analysis revealed an apparently balanced 8;16 translocation. Further FISH analysis with WCP 8 and WCP 16 probes revealed the presence...
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