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Case Reports
. 2001 Nov;55(5):458-62.

[Inverted duplication of the short arm of chromosome 8]

[Article in Spanish]
L Rodríguez Martínez  1 , N Jiménez Muñoz-Delgado, C Nieto, A Martínez Carrascal, F López Grondona, M L Martínez Frías
Affiliations
  • PMID: 11696311
Case Reports

[Inverted duplication of the short arm of chromosome 8]

[Article in Spanish]
L Rodríguez Martínez et al. An Esp Pediatr. 2001 Nov.

Abstract

We report two cases of agenesis of corpus callosum in which high resolution G-band cytogenetic study revealed inverted duplication of the short arm of chromosome 8. The application of hybridization techniques with fluorescence in situ hybridization (FISH) confirmed chromosomal alteration in both cases. The definitive karyotype was 46, XY or XX inv dup del (8) (qter-p23.1::p23.1-p11.2).ish (WCP 8 ) (tel 8p-).

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