Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. Issue 4 (9th February 2018)

• Record Type: Journal Article
• Authors: Genesio, Rita; Maruotti, Giuseppe Maria; Saccone, Gabriele; Mormile, Angela; Conti, Anna; Cicatiello, Rita; Sarnataro, Viviana; Sirico, Angelo; Izzo, Antonella; Martinelli, Pasquale; Nitsch, Lucio
• Is Part Of: Clinical case reports. Volume 6:Issue 4(2018)
• Page Start: 592
• Page End: 595
• Publication Date: 2018-02-09
• Subjects: 16p11.2 deletion syndrome -- array‐CGH analysis -- congenital diaphragmatic hernia -- prenatal diagnosis -- ultrasound fetal anomalies; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1369
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.