伴有食管闭锁/气管食管瘘及血管环的22q11.2微重复综合征
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
作者信息
Nguyen Linda T, Fleishman Rachel, Flynn Emilee, Prasad Rajeev, Moulick Achintya, Mesia Cesar Igor, Moyer Sue, Jethva Reena
机构信息
Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
出版信息
Clin Case Rep. 2017 Feb 11;5(3):351-356. doi: 10.1002/ccr3.815. eCollection 2017 Mar.
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
本病例报告描述了一名患有22q11.2重复综合征的患者。其特征包括伴有食管闭锁/气管食管瘘和血管环的VACTERL综合征，扩展了此前报道的该重复综合征的表型。
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