Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

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 isochromo...

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Main Authors: Digilio, M C, Giannotti, A, Floridia, G, Uccellatore, F, Mingarelli, R, Danesino, C, Dallapiccola, B, Zuffardi, O
Formato: Artigo
Idioma:Inglês
Publicado: 1994
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049750/
https://ncbi.nlm.nih.gov/pubmed/8014974
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