{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(3)"],"submitter":["Yalcintepe S"],"pubmed_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."],"journal":["Molecular syndromology"],"pagination":["235-239"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9149402"],"repository":["biostudies-literature"],"pubmed_title":["First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)."],"pmcid":["PMC9149402"],"pubmed_authors":["Atli E","Yalcintepe S","Sezginer Guler H","Mail C","Demir S","Gurkan H","Zhuri D","Atli EI"],"additional_accession":[]},"is_claimable":false,"name":"First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).","description":"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.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2025-04-05T14:54:30.754Z","creation":"2025-04-05T14:54:30.754Z"},"accession":"S-EPMC9149402","cross_references":{"pubmed":["35707598"],"doi":["10.1159/000519149"]}}