First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25). [PDF]
Mol Syndromol, 2022 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 ...
Yalcintepe S +7 more
europepmc +2 more sources
Chromoanasynthesis as a cause of Jacobsen syndrome. [PDF]
Am J Med Genet A, 2020 AbstractJacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 genes.
Anzick S +13 more
europepmc +3 more sources
Kaposi–Juliusberg syndrome in a young man with Jacobsen syndrome
International Journal of Infectious DiseasesSarah Soueges +2 more
doaj +3 more sources
Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization. [PDF]
Genes (Basel), 2021 Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations.
Rodríguez-López R +8 more
europepmc +5 more sources
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome Without Platelet Abnormality [PDF]
Clinical Medicine Insights Pediatrics, 2014 Anand Pandit +2 more
exaly +2 more sources
Complex Mosaic Ring Chromosome 11 Associated With Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome [PDF]
Molecular Syndromology, 2017 Rodrigo A Panepucci +2 more
exaly +2 more sources
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. [PDF]
Cold Spring Harb Mol Case Stud, 2019 Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including ...
Tootleman E +8 more
europepmc +2 more sources
Acta Medica Lituanica, 2012 Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity.
Vaidas DIRSĖ +3 more
doaj +1 more source
ETS1 and HLHS: Implications for the Role of the Endocardium
Journal of Cardiovascular Development and Disease, 2022 We have identified the ETS1 gene as the cause of congenital heart defects, including an unprecedented high frequency of HLHS, in the chromosomal disorder Jacobsen syndrome. Studies in Ciona intestinalis demonstrated a critical role for ETS1 in heart cell
Paul Grossfeld
doaj +1 more source
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. [PDF]
J Clin Immunol, 2015 Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia.
Dalm VA +4 more
europepmc +4 more sources