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

[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.

[学科分类] 基础医学

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