一名患有先天性膈疝、胎儿水肿和主动脉弓中断的婴儿存在1号染色体间质缺失（1p21.1p12）
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.
作者信息
Ibrahim Masitah, Hunter Matthew, Gugasyan Lucy, Chan Yuen, Malhotra Atul, Sehgal Arvind, Tan Kenneth
机构信息
Monash Newborn Monash Medical Centre Melbourne Victoria Australia.
Monash Genetics Monash Medical Centre Melbourne Victoria Australia; Department of Paediatrics Monash University Melbourne Victoria Australia.
出版信息
Clin Case Rep. 2017 Jan 23;5(2):164-169. doi: 10.1002/ccr3.759. eCollection 2017 Feb.
We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
我们报告一例患有先天性膈疝（CDH）和胎儿水肿的婴儿，其死于缺氧性呼吸衰竭。尸检显示为B型主动脉弓中断（IAA）。基因芯片分析显示为女性核型，伴有1p21.1p12染色体缺失。1p微缺失、CDH和IAA之间可能存在关联。
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