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Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab, Wisam; Mau-Holzmann, Ulrike; Singer, Sylke; Rieß, Angelika; Kagan, Karl-Oliver; Gerbig, Ines; Schäferhoff, Karin; Dufke, Andreas; Kehrer, Martin.
Afiliación
  • Habhab W; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Mau-Holzmann U; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Singer S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kagan KO; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Gerbig I; Department of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany.
  • Schäferhoff K; University Children's Hospital, University of Tübingen, Tübingen, Germany.
  • Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Am J Med Genet A ; 182(11): 2680-2684, 2020 11.
Article en En | MEDLINE | ID: mdl-32803851
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Trastornos de los Cromosomas / Enfermedades Fetales / Inversión Cromosómica Tipo de estudio: Diagnostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Trastornos de los Cromosomas / Enfermedades Fetales / Inversión Cromosómica Tipo de estudio: Diagnostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article