Trisomy 8 syndrome owing to isodicentric 8p chromosomes

Regional assignment of a presumptive gene involved in corpus callosum development

M. C. Digilio, A. Giannotti, G. Floridia, F. Uccellatore, R. Mingarelli, C. Danesino, B. Dallapiccola, O. Zuffardi

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)238-241
Number of pages4
JournalJournal of Medical Genetics
Volume31
Issue number3
Publication statusPublished - Mar 1994

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Agenesis of Corpus Callosum
Corpus Callosum
Chromosomes
Isochromosomes
Genes
Abnormal Karyotype
Chromosomes, Human, Pair 8
Mosaicism
Gene Duplication
Aneuploidy
Karyotype
In Situ Hybridization
Trisomy Chromosome 8

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Trisomy 8 syndrome owing to isodicentric 8p chromosomes : Regional assignment of a presumptive gene involved in corpus callosum development. / Digilio, M. C.; Giannotti, A.; Floridia, G.; Uccellatore, F.; Mingarelli, R.; Danesino, C.; Dallapiccola, B.; Zuffardi, O.

In: Journal of Medical Genetics, Vol. 31, No. 3, 03.1994, p. 238-241.

Research output: Contribution to journalArticle

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