Fetal phenotype of 17q12 microdeletion syndrome: Renal echogenicity and congenital diaphragmatic hernia in 2 cases

Abstract

What's already known about this topic? 17q12 microdeletion causes a variable phenotype including renal malformations, a predisposition to maturity onset diabetes of the young and neurobehavioural issues. 17q12 microdeletion has been associated with renal echogenicity in prenatal setting. Congenital diaphragmatic hernia is a rare association of 17q12 microdeletion. What does this study adds? Further evidence that congenital diaphragmatic hernia is part of the 17q12 microdeletion spectrum. First case report with 17q12 microdeletion phenotype discordance in monozygotic twins, highlighting variable expressivity.