病例报告：左心室流出道梗阻与 5p 缺失有关。

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY Frontiers in Genetics Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1451746

Kira Mascho, Svetlana A Yatsenko, Cecilia W Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R Helvaty, Stephanie Burns Wechsler, Chaya N Murali, Seema R Lalani, Vidu Garg, Jennelle C Hodge, Kim L McBride, Stephanie M Ware, Jiuann-Huey Ivy Lin

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引用次数: 0

摘要

简介5p缺失综合征又称5p Cri-du-chat综合征，是一种罕见的遗传综合征，有报道称高达36%的患者伴有先天性心脏缺陷。我们研究了左流出道梗阻与 Cri-du-chat 综合征之间的关联：方法：对匹兹堡儿童医院和心血管畸形细胞基因组学联合会的先天性心脏缺陷异常微阵列病例进行回顾性研究：在9个儿科中心进行的回顾性研究发现，4名患者存在5p缺失和左心室流出道梗阻（LVOTO）。其中三例患者存在额外的拷贝数变异。我们提供的数据表明，左心室流出道梗阻与5p缺失有关，如果存在额外的拷贝数变异，死亡率会很高：结论：在拷贝数变异和先天性心脏缺陷登记中观察到了 5p 缺失和左心室流出道梗阻的罕见组合。

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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.

Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.

Results: A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants.

Conclusion: A rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects.

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来源期刊

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.