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22号染色体缺失综合征:7例婴儿的随访数据报告及22q11位点遗传学知识最新进展综述

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

作者信息

Sergi C, Serpi M, Müller-Navia J, Schnabel P A, Hagl S, Otto H F, Ulmer H E

机构信息

Institute of Pathology, University of Heidelberg.

出版信息

Pathologica. 1999 Jun;91(3):166-72.

Abstract

CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, and a variable deletion on chromosome 22. The deletion within the chromosome region of 22q11 may occur in patients with three well-described dysmorphologic+ cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). We report in detail seven infants with a deletion of the locus 22q11 showing overlapping clinical features of DGS and CTAFS with complex congenital heart defects (double outlet right ventricle, atresia or stenosis of the pulmonary valve, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, major aortopulmonary collateral arteries, arcus aortae dexter, and persistence of the left superior vena cava). A homograft was implanted between the right ventricle and the main stem of the pulmonary artery in 2 patients, while a balloon valvuloplastic of the pulmonary valve was performed in one patient only. Pulmonary hemorrhage, acute hypoxia, and Aspergillus pneumonia were the complications. Death occurred in three out of seven patients. Recent advancements in the genetic knowledge of the locus 22q11 are described. Since the locus 22q11 is highly heterogeneous, the CATCH 22 acronym should be used and temporarily the old eponyms should be abandoned waiting for the identification of the different genes.

摘要

CATCH 22是心脏缺陷、面部异常、胸腺发育不全、腭裂和低钙血症以及22号染色体可变缺失的医学首字母缩写词。22q11染色体区域内的缺失可能发生在三种描述详尽的畸形+心脏综合征患者中:迪格奥尔格综合征(DGS)、腭心面综合征(VCFS)和圆锥动脉干异常面容综合征(CTAFS)。我们详细报告了7例22q11位点缺失的婴儿,他们表现出DGS和CTAFS的重叠临床特征,并伴有复杂先天性心脏病(右心室双出口、肺动脉瓣闭锁或狭窄、房间隔和室间隔缺损、动脉导管未闭、法洛四联症、主要的主肺动脉侧支动脉、右位主动脉弓和左上腔静脉持续存在)。2例患者在右心室和肺动脉主干之间植入了同种异体移植物,而仅1例患者进行了肺动脉瓣球囊成形术。并发症包括肺出血、急性缺氧和曲霉菌性肺炎。7例患者中有3例死亡。文中描述了22q11位点遗传知识的最新进展。由于22q11位点高度异质性,应使用CATCH 22首字母缩写词,并且在等待鉴定不同基因期间应暂时摒弃旧的命名。

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