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Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.
Genesio, Rita; Maruotti, Giuseppe Maria; Saccone, Gabriele; Mormile, Angela; Conti, Anna; Cicatiello, Rita; Sarnataro, Viviana; Sirico, Angelo; Izzo, Antonella; Martinelli, Pasquale; Nitsch, Lucio.
Affiliation
  • Genesio R; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Maruotti GM; Department of Neuroscience, Reproductive Sciences and Dentistry School of Medicine University of Naples Federico II Naples Italy.
  • Saccone G; Department of Neuroscience, Reproductive Sciences and Dentistry School of Medicine University of Naples Federico II Naples Italy.
  • Mormile A; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Conti A; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Cicatiello R; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Sarnataro V; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Sirico A; Department of Neuroscience, Reproductive Sciences and Dentistry School of Medicine University of Naples Federico II Naples Italy.
  • Izzo A; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  • Martinelli P; Department of Neuroscience, Reproductive Sciences and Dentistry School of Medicine University of Naples Federico II Naples Italy.
  • Nitsch L; Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
Clin Case Rep ; 6(4): 592-595, 2018 04.
Article in En | MEDLINE | ID: mdl-29636920
ABSTRACT
A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion traits, associated with CHD; (2) a possible role of ATP2A1, a deleted gene involved in diaphragm development.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Clin Case Rep Year: 2018 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Clin Case Rep Year: 2018 Document type: Article