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对295例具有DiGeorge/腭心面综合征临床特征的患者进行22q11.2微缺失和微重复筛查。

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

作者信息

Brunet Anna, Gabau Elisabeth, Perich Rosa Maria, Valdesoiro Laura, Brun Carme, Caballín Maria Rosa, Guitart Miriam

机构信息

Laboratori de Genètica, UDIAT-Centre Diagnòstic, Servei de Pediatria, Fundació Parc Taulí Institut Universitari UAB, Corporació Sanitària Parc Taulí, Sabadell, Spain.

出版信息

Am J Med Genet A. 2006 Nov 15;140(22):2426-32. doi: 10.1002/ajmg.a.31499.

Abstract

The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features.

摘要

22q11.2区域易发生染色体重排,导致各种类型的先天性畸形和智力迟钝。最常见的异常是22q11.2微缺失,与DiGeorge/腭心面综合征(DG/VCFS)相关。最近,22q11.2微重复综合征已被识别。患有这种新的染色体疾病的患者的一些临床特征与DG/VCFS有很大重叠。这项基于医院的研究的目的是评估具有DG/VCFS特征的患者中22q11.2缺失和重复的发生率。我们调查了一组295例表现广泛多样且与DG/VCFS相关的患者。除了临床诊断外,还注意到了不同的异常情况,如圆锥动脉干心脏异常、腭咽功能不全、特征性面部畸形特征、语言障碍、发育迟缓/学习困难以及免疫异常或胸腺发育不全。实验室研究包括传统细胞遗传学和荧光原位杂交(FISH)检测。分析中期和间期细胞中22q11.2微缺失或微重复的存在情况。有12例患者携带22q11.2微缺失,该区域未发现微重复。在5例具有重叠DG/VCFS表型的患者中报告了其他染色体异常。所有22q11.2微缺失的患者均表现出DG/VCFS的特征性表型。我们未发现22q11.2微重复,提示这在具有DG/VCFS特征的患者中是罕见事件。

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