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Genesio R, Maruotti GM, Saccone G, et al. Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. Clin Case Rep. 2018;6(4):592-595doi: 10.1002/ccr3.1369.
Genesio, R., Maruotti, G. M., Saccone, G., Mormile, A., Conti, A., Cicatiello, R., Sarnataro, V., Sirico, A., Izzo, A., Martinelli, P., & Nitsch, L. (2018). Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. Clinical case reports, 6(4), 592-595. https://doi.org/10.1002/ccr3.1369
Genesio, Rita, et al. "Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report." Clinical case reports vol. 6,4 (2018): 592-595. doi: https://doi.org/10.1002/ccr3.1369
Genesio R, Maruotti GM, Saccone G, Mormile A, Conti A, Cicatiello R, Sarnataro V, Sirico A, Izzo A, Martinelli P, Nitsch L. Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. Clin Case Rep. 2018 Feb 09;6(4):592-595. doi: 10.1002/ccr3.1369. eCollection 2018 Apr. PMID: 29636920; PMCID: PMC5889234.
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Clin Case Rep. 2018 Feb 09;6(4):592-595. doi: 10.1002/ccr3.1369. eCollection 2018 Apr.

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.

Clinical case reports

Rita Genesio, Giuseppe Maria Maruotti, Gabriele Saccone, Angela Mormile, Anna Conti, Rita Cicatiello, Viviana Sarnataro, Angelo Sirico, Antonella Izzo, Pasquale Martinelli, Lucio Nitsch

Affiliations

  1. Department of Molecular Medicine and Medical Biotechnology School of Medicine University of Naples Federico II Naples Italy.
  2. Department of Neuroscience, Reproductive Sciences and Dentistry School of Medicine University of Naples Federico II Naples Italy.

PMID: 29636920 PMCID: PMC5889234 DOI: 10.1002/ccr3.1369

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

Keywords: 16p11.2 deletion syndrome; array‐CGH analysis; congenital diaphragmatic hernia; prenatal diagnosis; ultrasound fetal anomalies

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