Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.
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ABSTRACT:
SUBMITTER: Genesio R
PROVIDER: S-EPMC5889234 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
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Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.
Genesio Rita R Maruotti Giuseppe Maria GM Saccone Gabriele G Mormile Angela A Conti Anna A Cicatiello Rita R Sarnataro Viviana V Sirico Angelo A Izzo Antonella A Martinelli Pasquale P Nitsch Lucio L
Clinical case reports 20180209 4
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 <i>ATP2A1</i>, a deleted gene involved in diaphragm development. ...[more]
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