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

Rita GenesioGiuseppe Maria MaruottiGabriele SacconeAngela MormileAnna ContiRita CicatielloViviana SarnataroAngelo SiricoAntonella IzzoPasquale MartinelliLucio Nitsch

Published in: Clinical case reports (2018)

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.

Keyphrases

genome wide
minimally invasive
pregnant women
gene expression
dna damage
copy number
dna methylation
mechanical ventilation
extracorporeal membrane oxygenation