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An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou, Paola; Kousoulidou, Ludmila; Salameh, Nicole; Alexandrou, Angelos; Papaevripidou, Ioannis; Alexandrou, Ioanna-Maria; Ketoni, Andria; Ioannidou, Charithea; Christophidou-Anastasiadou, Violetta; Tanteles, George A; Sismani, Carolina.
Afiliação
  • Evangelidou P; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Kousoulidou L; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Salameh N; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Papaevripidou I; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Alexandrou IM; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Ketoni A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Ioannidou C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Christophidou-Anastasiadou V; Archbishop Makarios III Medical Centre, Nicosia, Cyprus.
  • Tanteles GA; Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus. Electronic address: csismani@cing.ac.cy.
Eur J Med Genet ; 63(12): 104084, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33045407
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Williams / Estenose Aórtica Supravalvular / Síndrome de DiGeorge / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Chipre
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Williams / Estenose Aórtica Supravalvular / Síndrome de DiGeorge / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Chipre