case reports

• An (11;21) Translocation in Four Generations with Chromosome 11 Abnormalities in the Offspring

• Partial deletion of long arm of chromosome 11 [del(11)(q23)]: Jacobsen syndrome

• Clinical and Molecular Characterization of Patients with Distal IIq Deletions

• Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism  associated with deletion 11(q23q25) and review of 52 cases

• Partial deletion of the long arm of chromosome 11: ten Japanese children

• Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome

• A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes

• Paris-Trousseau Syndrome Platelets in a Child With Jacobsen’s Syndrome

• Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization

• Clinical and genetic aspects of trigonocephaly: a study of 25 cases

• The 11q Terminal Deletion Disorder: A Prospective Study of 110 Cases

• Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

• Anesthetic implications of Jacobsen syndrome

• Are cecal wrap and fixation necessary for antegrade colonic enema appendicostomy?

• Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome

• Chromosomal aberrations in congenital bone marrow failure disorders—an early indicator for leukemogenesis?

• Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases

• Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

• Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

• Interstitial 11q deletion derived from a maternal ins (4;11) (p14;q24.2q25): a patient report and review

• A novel case of Bilateral High Myopia, cataract, and total retinal detachment Associated with Interstitial 11q deletion

• Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

• HYPOGAMMAGLOBULINEMIA IN A 12-YEAR-OLD PATIENT WITH JACOBSEN SYNDROME

• Blalock-Taussig Shunt Thrombosis Prophylaxis in a Patient With Jacobsen Syndrome and Thrombocytopenia

• Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16)

• Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down’s syndrome, and Jacobsen syndrome: A case control study

• Pure Distal 11q Deletion without Additional Genomic Imbalances in a Female Infant with Jacobsen Syndrome and a De Novo Unbalanced Reciprocal Translocation

• Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy

• 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome

• Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report

• Jacobsen syndrome without thrombocytopenia: a case report and review of the literature

• Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome

• A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism

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

• Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

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

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

• A case of Jacobsen syndrome with multifocal white matter lesions

• Brain Hemorrhages in Jacobsen Syndrome: A Retrospective Review of Six Cases and Clinical Recommendations

• 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

• Morphological and genetic abnormalities in a Jacobsen syndrome

• 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report 

• Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region

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

• Scurvy Findings in a Child with Jacobsen Syndrome

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

• Two siblings with 11qter deletion syndrome that had been rescued in their T mother by uniparental disomy

• White matter abnormality in Jacobsen syndrome assessed by serial MRI

• Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome

• Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome

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

• Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report

• First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25) 

• Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

• Recurrent Spontaneous Intracranial Hemorrhage in a Patient With Jacobsen Syndrome

• Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report

• Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome

• Immunodeficiency and Lymphoma in Jacobsen Syndrome

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

• Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

• Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

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

• Brain Hemorrhages in Jacobsen Syndrome: A Retrospective Review of Six Cases and Clinical Recommendations

• Increased Excitatory Synaptic Transmission of Dentate Granule Neurons in Mice Lacking PSD-95-Interacting Adhesion Molecule Neph2/Kirrel3 during the Early Postnatal Period

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

• Recurrent Spontaneous Intracranial Hemorrhage in a Patient With Jacobsen Syndrome

• Jacobsen syndrome with bilateral periventricular white matter lesions

• An (11;21) Translocation in Four Generations with Chromosome 11 Abnormalities in the Offspring

• Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome

• Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction

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

• Deletion of JAM-C, a Candidate Gene for Heart Defects in Jacobsen Syndrome, Results in a Normal Cardiac Phenotype in Mice

• Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

• Persistent left superior vena cava: does it have a role in the pathogenesis of hypoplastic left heart syndrome?

• Blalock-Taussig Shunt Thrombosis Prophylaxis in a Patient With Jacobsen Syndrome and Thrombocytopenia

• Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects

• Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data

• Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function

• 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

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

• Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

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

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

• Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction

• Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report

• Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics

• 11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

• Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

• Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size

• Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

• Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference

• Jacobsen Syndrome, Braddock–Carey Syndrome, and Beyond: Reflections on Intellectual Disability Accompanied with Thrombocytopenia

• PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

• Neph2/Kirrel3 regulates sensory input, motor coordination, and home-cage activity in rodents

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

• Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability

• Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3)

• Nuchal thickening in Jacobsen syndrome

• Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

• Prenatal diagnosis of mosaicism for 11q terminal deletion

• Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses

• Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

• Jacobsen syndrome detected by noninvasive prenatal testing

• 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

• Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability

• Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome

• Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen Syndrome)

• Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down’s syndrome, and Jacobsen syndrome: A case control study