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