Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

• Autor(a) principal: David, Dezső
• Data de Publicação: 2020
• Outros Autores: Freixo, João P., Fino, Joana, Carvalho, Inês, Marques, Mariana, Cardoso, Manuela, Piña-Aguilar, Raul E., Morton, Cynthia C.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/7649
• topic: Adolescent; Adult; Chromosomes, Human; Female; Humans; Male; Pregnancy; Workflow; Abnormalities, Multiple; Bone Diseases, Developmental; Chromosome Disorders; Facies; Genes, Dominant; Intellectual Disability; Prenatal Diagnosis; Tooth Abnormalities; Translocation, Genetic; Doenças Genéticas

Acknowledgements We dedicate this article to Maria Guida Boavida who founded the Human Genetics Laboratory as the precursor of the current Department of Human Genetics at the National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal. She and her colleagues performed the first chromosomal prenatal diagnosis from cultured amniocytes in Portugal in July 1977 (no. 77180). However, the first translocation in PND, a paternally inherited Robertsonian t(13;14) (no. 80321), was only identified in June 1980. Almost 40 years later, we report application of an liGS-based approach for the identification of dnBCAs breakpoints in PND. First, we are grateful to the family members for their involvement in this study. We thank Dr. Michael Talkowski and members of his lab for library preparation and sequencing data generation. We thank Jader Cruz for echographic diagnosis of fetal heart defects, to Hildeberto Correia, Ana Cristina Alves and Bárbara Marques for conventional prenatal diagnosis, and to Márcia Rodrigues, Sofia Nunes, Teresa Kay, and Rui Gonçalves for their contribution to the project.