Research & Literature

A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.

Malia LA, Wolkoff LI, Mnayer L, et al.

Journal of pediatric hematology/oncology 2015; (37(7)):e429-32 doi:10.1097/MPH.0000000000000372.

Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

Carpinelli MR, Kruse EA, Arhatari BD, et al.

The American journal of pathology 2015; (185(7)):1867-76.

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

Yamamoto T, Shimada S, Shimojima K, et al.

European journal of medical genetics 2015; (58(9)):492-6.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Favier R, Akshoomoff N, Mattson S, Grossfeld P

American journal of medical genetics. Part C, Seminars in medical genetics 2015; (169(3)):239-50 doi:10.1002/ajmg.c.31448.

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

Dalm VA, Driessen GJ, Barendregt BH, et al.

Journal of clinical immunology 2015; (35(8)):761-8 doi:10.1007/s10875-015-0211-z.

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

Linares Chávez EP, Toral López J, Valdés Miranda JM, et al.

Molecular syndromology 2016; (6(5)):229-35 doi:10.1159/000442477.

de novo interstitial deletions at the 11q23.3-q24.2 region.

Su J, Chen R, Luo J, et al.

Molecular cytogenetics 2016; (9()):39 doi:10.1186/s13039-016-0247-7.

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.

Blazina Š, Ihan A, Lovrečić L, Hovnik T

American journal of medical genetics. Part A 2016; (170(12)):3237-3240 doi:10.1002/ajmg.a.37859.

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.

Chen CP, Wang LK, Wu PC, et al.

Taiwanese journal of obstetrics & gynecology 2017; (56(1)):102-105 doi:10.1016/j.tjog.2016.12.004.

Singling out FLI1 in Paris-Trousseau syndrome.

Falet H

Blood 2017; (129(26)):3399-3401 doi:10.1182/blood-2017-05-781252.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Kutkowska-Kaźmierczak A, Gos M, Obersztyn E

Journal of applied genetics 2018; (59(2)):133-147 doi:10.1007/s13353-017-0423-4.

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Ye M, Xu L, Fu M, et al.

American journal of medical genetics. Part A 2019; (179(1)):71-77 doi:10.1002/ajmg.a.40481.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

Conrad S, Demurger F, Moradkhani K, et al.

American journal of medical genetics. Part A 2019; (179(6)):993-1000 doi:10.1002/ajmg.a.61113.

Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

Patel H, Kumar A, Raymond G, Mainali G

Neurology 2019; (92(14)):e1665-e1666 doi:10.1212/WNL.0000000000007234.

Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome.

Herrick NL, Lamberti J, Grossfeld P, Murthy R

World journal for pediatric & congenital heart surgery 2021; (12(3)):421-424 doi:10.1177/2150135118822678.

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.

Tootleman E, Malamut B, Akshoomoff N, et al.

Cold Spring Harbor molecular case studies 2019; (5(3)) doi:10.1101/mcs.a004010.

Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report.

Puddy AC, Hughes JL, Joffe AL, et al.

JBJS case connector 2019; (9(3)):e0352 doi:10.2106/JBJS.CC.18.00352.

Quantitative outcomes of endoscopic strip craniectomy for metopic craniosynostosis in children with severe trigonocephaly.

Lajthia O, Rogers GF, Tsering D, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2021; (37(2)):573-579 doi:10.1007/s00381-020-04849-3.

Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.

Gunaseelan S, Wang Z, Tong VKJ, et al.

Human molecular genetics 2021; (30(1)):5-20 doi:10.1093/hmg/ddaa281.

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Serra G, Memo L, Antona V, et al.

Italian journal of pediatrics 2021; (47(1)):147 doi:10.1186/s13052-021-01108-2.

Obstructive Sleep Apnea in Jacobsen Syndrome.

Tubbs AS, Combs D, Grandner MA, Parthasarathy S

Sleep and vigilance 2019; (3(1)):77-79 doi:10.1007/s41782-019-00060-w.

Recurrent Spontaneous Intracranial Hemorrhage in a Patient With Jacobsen Syndrome.

Suryadevara N, Ahmed R, El-Dokla A

Neurology. Clinical practice 2021; (11(4)):e598-e599 doi:10.1212/CPJ.0000000000000963.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.

Baronio M, Saettini F, Gazzurelli L, et al.

Journal of clinical immunology 2022; (42(2)):365-374 doi:10.1007/s10875-021-01169-2.

Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.

Briegel W

International journal of environmental research and public health 2021; (18(22)) doi:10.3390/ijerph182212064.

Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.

Huisman EJ, Brooimans AR, Mayer S, et al.

Journal of clinical immunology 2022; (42(7)):1521-1534 doi:10.1007/s10875-022-01303-8.

Trigonocephaly: Quantitative Comparison of the Complete Vault Reconstruction and Minimally Invasive Suturectomy.

Masoudi MS, Yousefi S, Yousefi O, et al.

World neurosurgery 2022; (166()):e77-e83 doi:10.1016/j.wneu.2022.06.093.

ETS1 and HLHS: Implications for the Role of the Endocardium.

Grossfeld P

Journal of cardiovascular development and disease 2022; (9(7)) doi:10.3390/jcdd9070219.

ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest.

Lin L, Pinto A, Wang L, et al.

Human molecular genetics 2022; (31(24)):4217-4227 doi:10.1093/hmg/ddac174.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Trachsel T, Prader S, Steindl K, Pachlopnik Schmid J

Frontiers in immunology 2022; (13()):867206 doi:10.3389/fimmu.2022.867206.

Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation.

Ferrigno F, Franceschini A, Kirk R, Amodeo A

Journal of cardiovascular development and disease 2022; (10(1)) doi:10.3390/jcdd10010008.

Recurrent pneumonia in a child with Jacobsen syndrome and common variable immune deficiency.

Thomas RG

Clinical case reports 2023; (11(6)):e7472 doi:10.1002/ccr3.7472.

Jacobsen syndrome associated with Shone's complex: a case report.

Brum A, Laskoski LV, Matos FGOA, d'Arce LPG

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2025; (43()):e2024136 doi:10.1590/1984-0462/2025/43/2024136.

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.

Huisman EJ, Dalm VASH, Joosten M, et al.

European journal of haematology 2025; doi:10.1111/ejh.14447.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Vo D, Co-Vu J, Wynn T, Langford DK

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2025; (45(4)):e70086 doi:10.1111/scd.70086.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Khudhur HW, Saeed G, Al Zeyoudi F, Mohamadiyeh AM

Cureus 2025; (17(10)):e95238 doi:10.7759/cureus.95238.

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Garriz-Luis A, Rodríguez-Toscano E, Burdeus-Olavarrieta M, et al.

Journal of neurodevelopmental disorders 2025; doi:10.1186/s11689-025-09659-9.