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Updated: Aug 12, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Inverted duplication of the short arm of chromosome 8]
L Rodríguez Martínez1, N Jiménez Muñoz-Delgado, C Nieto
1Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid. luisama@eucmos.sim.ucm.es
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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