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MEDICAL ARTICLES

collaboration and innovation

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

central nervous system

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

A case of Jacobsen syndrome with multifocal white matter lesions

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

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

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

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

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

Author response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diuse hypomyelination of brain

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diuse hypomyelination of brain

Chromoanasynthesis as a cause of Jacobsen syndrome

Multiple cerebral cysts are another possible feature of Jacobsen syndrome

White matter abnormality in Jacobsen syndrome assessed by serial MRI

Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging

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

FEZ1 participates in human embryonic brain development by modulating neuronal progenitor subpopulation specification and migrations

gene mapping

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

Partial deletion of long arm of chromosome 1 l[del(11)(q23)]: Jacobsen syndrome

Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome

Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3

Mapping of the a-Tectorin Gene (TECTA) to Mouse Chromosome 9 and Human Chromosome 11: A Candidate for Human Autosomal Dominant Nonsyndromic Deafness

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B

Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q

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

Cloning and chromosomal localization of the human BARX2 homeobox protein gene

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

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

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype–phenotype maps

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

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

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

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

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

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

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

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

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

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

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

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

Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects

heart

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

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

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

immune system

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

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

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

Hematological abnormalities in Jacobsen syndrome: Cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow

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

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

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

Jacobsen Syndrome in a Patient with Combined Immunodeficiency, Thrombocytopenia, and Lymphoma

intellectual disability

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

partial Jacobsen syndrome

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)

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

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

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

prenatal

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

Prenatal Identification and Confirmation of Jacobsen Syndrome: A Series of Four Cases

sleep

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

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