Open AccessFirst Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
Author(s) -
Sinem Yalçıntepe,
Drenushe Zhuri̇,
Hazal Sezginer Guler,
Engin Atlı,
Selma Demir,
Emine İkbal Atlı,
Cisem Mail,
Hakan Gürkan
Publication year - 2022
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000519149
Subject(s) - dextrocardia , medicine , karyotype , genetics , pediatrics , chromosome , biology , gene
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.