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Se presentan 2 casos con agenesia de cuerpo calloso en los que el estudio citogenético con bandas G de alta resolución reveló una duplicación invertida del brazo corto del cromosoma 8.
La aplicación de técnicas de hibridación in situ (FISH) confirmó la alteración cromosómica en ambos casos, siendo el cariotipo definitivo: 46,XY o XX inv dup del (8) (qter-p23.1::p23.1-p11.2).ish (WCP 8+)(tel 8p-)
Palabras clave:
Duplicación invertida
Agenesia de cuerpo calloso
Cromosoma 8
FISH
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 81) (tel 8p-)
Key words:
Inverted duplication
Agenesis of corpus callosum
Chromosome 8
FISH
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