First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Molecular syndromology

article

Yalcintepe, Sinem¹  Zhuri, Drenushe¹  Sezginer Guler, Hazal¹  Atli, Engin¹  Demir, Selma¹  Atli, Emine Ikbal¹  Mail, Cisem¹  Gurkan, Hakan¹ 

[1] Department of Medical Genetics, Faculty of Medicine, Trakya University

关键词: Jacobsen syndrome;    Dextrocardia;    Array-CGH;    Congenital heart disease;    Deletion 11q;   

DOI  :  10.1159/000519149

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.

【 授权许可】

CC BY