Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

Autor(es):Mostrar menos -

Villela, Darine ^{[1, 2]} ; Mazzonetto, Patricia C. ^[2] ; Migliavacca, Michele P. ^[2] ; Perrone, Eduardo ^{[2, 3]} ; Guida, Gustavo ^[2] ; Milanezi, Maria Fernanda G. ^[2] ; Jorge, Alexander A. L. ^[4] ; Ribeiro-Bicudo, Lucilene A. ^[5] ; Kok, Fernando ; Campagnari, Francine ^[6] ; de Rosso-Giuliani, Liane ^[7] ; da Costa, Silvia Souza ^[1] ; Vianna-Morgante, Angela M. ^[1] ; Pearson, Peter L. ^[1] ; Krepischi, Ana C. V. ^[1] ; Rosenberg, Carla ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo - Brazil

^[2] GeneOne, DASA, Sao Paulo - Brazil

^[3] Fed Univ Sao Paulo UNIFESP, Dept Clin Genet, Sao Paulo - Brazil

^[4] Univ Sao Paulo, Med Sch FMUSP, Clin Hosp, Lab Cellular & Mol Endocrinol LIM25, Genet Endocrinol Unit, Div Endocrinol & Metabol, Sao Paulo - Brazil

^[5] Univ Fed Goias, Inst Biosci, Dept Genet, Goiania, Go - Brazil

^[6] Deoxi Biotechnol Ltda, Aracatuba, SP - Brazil

^[7] Fed Univ Mato Grosso HUMAP UFMS, Univ Hosp Maria Aparecida Pedrossian, Campo Grande, MS - Brazil

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 185, n. 8, p. 2335-2344, AUG 2021.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
• Beneficiário: Mayana Zatz
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Processo FAPESP: 14/17132-0 - Uso de Next Generation Sequencing na avaliação de cariótipos com número variável de cópias do cromossomo X
• Beneficiário: Darine Christina Maia Villela
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado
• Processo FAPESP: 12/50981-5 - Uso de arrays genômicos de alta resolução e next generation sequencing no diagnóstico de deficiência mental e anomalias congênitas
• Beneficiário: Francine Campagnari Guilhem
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa Inovativa em Pequenas Empresas - PIPE