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

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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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Genesio, R., Maruotti, G. M., Saccone, G., Mormile, A., Conti, A., Cicatiello, R., … 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

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