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De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature |
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| Authors: | Luca Bartolini Stefano Sartori Elisabetta Lenzini Chiara Rigon Elisa Cainelli Cristina Agrati Irene Toldo Marta Donà Eva Trevisson |
| Institution: | 1. Child Neurology Unit, Department of Women''s and Children''s Health, University of Padua, Italy;2. Molecular Cytogenetics Laboratory, Department of Women''s and Children''s Health, University of Padua, Italy;3. Clinical Genetics Unit, Department of Women''s and Children''s Health, University of Padua, Italy;4. Toma Advanced Biomedical Assays, Busto Arsizio, Varese, Italy |
| Abstract: | We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. |
| Keywords: | FISH fluorescence in situ hybridization Array-CGH array-comparative genomic hybridization INeS Italian Neonatal Study ALTE apparent life-threatening event ABR auditory brainstem responses MRI magnetic resonance imaging UCSC University of California Santa Cruz OMIM Online Mendelian Inheritance in Man DECIPHER DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources ISCA International Standards for Cytogenomic Arrays Consortium ECARUCA European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations HEK Human Embryonic Kidney 293 cells NHEJ Non-Homologous End-Joining FoSTeS Fork Stalling and Template Switching model MMBIR microhomology-mediated break-induced replication |
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