Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome [PDF]
Frontiers in Immunology, 2022 Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in chromosome 11. The clinical presentation is variable. Although immunodeficiency has been described in patients with Jacobsen syndrome, a clear genotype-phenotype ...
Tina Trachsel +4 more
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Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation [PDF]
Journal of Cardiovascular Development and Disease, 2022 Jacobsen syndrome (JS) is a rare syndrome caused by a deletion of chromosome 11q. We report a patient with JS and hypoplastic left heart syndrome (HLHS) who required cardiac transplantation.
Federica Ferrigno +3 more
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Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report [PDF]
Journal of Medical Case Reports, 2022 Background We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed ...
Marit Lunde Dalen +4 more
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Recurrent pneumonia in a child with Jacobsen syndrome and common variable immune deficiency [PDF]
Clinical Case Reports, 2023 Key Clinical Message Recurrent severe respiratory infections in Jacobsen syndrome (JS) are unusual and should prompt evaluation of the immune system. A variety of immune defects have been reported in JS and intravenous immune globulin (IVIG) treatment ...
Ryan G. Thomas
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Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report [PDF]
JA Clinical Reports, 2022 Background Jacobsen syndrome is a rare genetic disorder with multiple congenital anomalies and platelet abnormalities caused by chromosome 11 deletion. Case presentation A 7-month-old boy with thrombocytopenia underwent ventricular septal defect closure.
Chikashi Takeda +5 more
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Jacobsen syndrome associated with Shone’s complex: a case report [PDF]
Revista Paulista de PediatriaObjective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome
Andressa Brum +3 more
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Jacobsen syndrome and neonatal bleeding: report on two unrelated patients [PDF]
Italian Journal of Pediatrics, 2021 Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father.
Gregorio Serra +6 more
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Orphanet Journal of Rare Diseases, 2009 Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1.
Grossfeld Paul +2 more
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Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay [PDF]
Clinical Case ReportsJacobsen syndrome is a rare 11q deletion disorder with multisystem involvement. This case highlights a complex unbalanced 11;15 translocation, olfactory bulb agenesis, extensive white matter abnormalities, and severe endocrinopathies, emphasizing the ...
Sajjad Ghanim Al‐Badri +4 more
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Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype [PDF]
Clinical Case ReportsThis case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking ...
Yuri Hasegawa +4 more
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