Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a <i>SYNGAP1</i> likely pathogenic variant.

Sabatini, Peter J B; Ejaz, Resham; Stavropoulos, Dimitri J; Mendoza-Londono, Roberto; Joseph-George, Ann M

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.

Sabatini, Peter J B; Ejaz, Resham; Stavropoulos, Dimitri J; Mendoza-Londono, Roberto; Joseph-George, Ann M.

Afiliação

Sabatini PJB; 1Laboratory Medicine Program, Department of Pathology, University Health Network, 200 Elizabeth St, Toronto, ON M5G 2C4 Canada.
Ejaz R; 2Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada.
Stavropoulos DJ; 3Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada.
Mendoza-Londono R; 2Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada.
Joseph-George AM; 4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada.

Mol Cytogenet ; 11: 50, 2018.

Article em En | MEDLINE | ID: mdl-30181777

Palavras-chave

Chromoanagenesis; Chromoanasynthesis; Familial transmission; SYNGAP1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Cytogenet Ano de publicação: 2018 Tipo de documento: Article

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