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Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
  1. M C Digilio,
  2. A Giannotti,
  3. G Floridia,
  4. F Uccellatore,
  5. R Mingarelli,
  6. C Danesino,
  7. B Dallapiccola,
  8. O Zuffardi
  1. Dipartimento di Genetica Medica, IRCCS Ospedale Bambin Gesù, Roma, Italy.

    Abstract

    Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical. Agenesis of the corpus callosum (ACC), which is a feature of trisomy 8 syndrome, was found in both patients. Although ACC is associated with aneuploidies for different chromosomes, a review of published reports indicates that, when associated with chromosome 8, this defect is the result of duplication of a gene located within 8p21-pter. Molecular analysis in one of our patients led us to exclude the distal 23 Mb of 8p from this ACC region.

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