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

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.

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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