AI Article Synopsis
- Jacobsen syndrome is a rare genetic disorder linked to the deletion of genes on chromosome 11.
- A 10-year-old girl with this condition presented with congenital heart disease, dextrocardia, and distinct facial features.
- This case marks the first documented instance of Jacobsen syndrome associated with dextrocardia.
Article Abstract
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.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149402 | PMC |
| http://dx.doi.org/10.1159/000519149 | DOI Listing |
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