Ontology highlight
ABSTRACT:
SUBMITTER: Su J
PROVIDER: S-EPMC4858824 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Su Jiasun J Chen Rongyu R Luo Jingsi J Fan Xin X Fu Chunyun C Wang Jin J He Sheng S Hu Xuyun X Zhang ShuJie S Yi Shang S Chen Shaoke S Shen Yiping Y
Molecular cytogenetics 20160505
<h4>Background</h4>Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.<h4>Case presentation</h4>We presented the chromosome microarray (CMA) data and the clinical features of two individuals carrying a non-overlapping de novo deletion each at the 11q23.3-q24.2 region in an effort to analyze the correlation between region of deletion at 11 ...[more]