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Title: Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
Authors: VILLELA, DarineMAZZONETTO, Patricia C.MIGLIAVACCA, Michele P.PERRONE, EduardoGUIDA, GustavoMILANEZI, Maria Fernanda G.JORGE, Alexander A. L.RIBEIRO-BICUDO, Lucilene A.KOK, FernandoCAMPAGNARI, FrancineROSSO-GIULIANI, Liane deCOSTA, Silvia Souza daVIANNA-MORGANTE, Angela M.PEARSON, Peter L.KREPISCHI, Ana C. V.ROSENBERG, Carla
Citation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.185, n.8, p.2335-2344, 2021
Abstract: Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 15 years, we performed CMA in approximately 8,000 patients with neurodevelopmental and/or congenital disorders, of which 13 (0.16%) genetically catastrophic complex chromosomal rearrangements were identified. These ultrarare rearrangements showed clustering of breakpoints, characteristic of chromoanagenesis events. Al1 13 complex events display underlying formation mechanisms, originating either by a synchronization of the shattering of clustered chromosome regions in which regional asynchrony of DNA replication may be one of the main causes of disruption. We provide an overview of the copy number profiling in these patients. Although several previous studies have suggested that chromoanagenesis is often a genetic disease source in postnatal diagnostic screening, due to either the challenge of clinical interpretation of these complex rearrangements or the limitation of microarray resolution relative to the small size and complexity of chromogenic induced chromosome abnormalities, bringing further attention and to study its occurrence in the clinical setting is extremely important.
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Artigos e Materiais de Revistas Científicas - FM/MCM
Departamento de Clínica Médica - FM/MCM

Artigos e Materiais de Revistas Científicas - FM/MNE
Departamento de Neurologia - FM/MNE

Artigos e Materiais de Revistas Científicas - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia

Artigos e Materiais de Revistas Científicas - LIM/25
LIM/25 - Laboratório de Endocrinologia Celular e Molecular

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