De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Frontiers in Pediatrics

Gabriel C. Dworschak¹ 

关键词: congenital diaphragmatic hernia;    CDH;    Beckwith-Wiedemann syndrome;    BWS;    11p15 duplication;    partial trisomy;    methylation status;    de novo;   

DOI  :  10.3389/fped.2018.00116

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH remains unknown, a multitude of causative chromosomal aberrations has been identified.

【 授权许可】

CC BY