Search

Your search keyword '"Fiocchi, Isabella"' showing total 1 results
Start Over Author "Fiocchi, Isabella" Journal american journal of human genetics
1 results on '"Fiocchi, Isabella"'

1. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

Author

Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, dalla Bernardina, Bernardo, and Zuffardi, Orsetta

Subjects
DNA microarrays -- Usage, Genetic recombination -- Research, Human genome -- Research, Hybridization -- Genetic aspects, Mental retardation -- Causes of, Mental retardation -- Genetic aspects, Biological sciences
Abstract

A whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) method is used to identify a previously undescribed syndrome characterized by recurrent duplications of Xp11.22-p11.23 chromosomes associated with mental retardation, speech delay, and EEG anomalies in males and females. Research reveals that most of the rearrangements are mediated by recombinations between adjacent complex segmental duplications.

Published
2009

Catalog

Books, media, physical & digital resources
See catalog results