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Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature |
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| Authors: | Chiara Castronovo Milena Crippa Ilaria Bestetti Daniela Rusconi Silvia Russo Lidia Larizza Roberto Sangermani Maria Teresa Bonati Palma Finelli |
| Affiliation: | 1. Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy;2. Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy;3. Medical Genetics, Department of Health Sciences, University of Milan, Milano, Italy;4. Clinic of Neuropediatrics, San Carlo Borromeo Hospital, Milano, Italy;5. Clinic of Clinical Genetics, San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milano, Italy |
| Abstract: | |
| Keywords: | 15q11– q13 interstitial triplications autism array CGH low‐copy repeat U‐type exchange NAHR |