title: [Inverted duplication of the short arm of chromosome 8].
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-).
authors.affiliation: Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid. luisama@eucmos.sim.ucm.es
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez Martínez
authors.forename: N
authors.initials: N
authors.lastname: Jiménez Muñoz-Delgado
authors.forename: C
authors.initials: C
authors.lastname: Nieto
authors.forename: A
authors.initials: A
authors.lastname: Martínez Carrascal
authors.forename: F
authors.initials: F
authors.lastname: López Grondona
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez Frías
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male