Results 1 to 10 of about 16,653 (195)
DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood [PDF]
Case Reports in Medicine, 2013 Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report.
Adrian Zammit +3 more
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DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis [PDF]
Clinical Case ReportsDiGeorge syndrome (22q11.2 deletion syndrome) is a congenital disorder typically identified in infancy, but adult presentations may feature autoimmune and thrombotic complications.
Aziz‐ur‐Rahman Khalid +7 more
doaj +2 more sources
Thymus transplantation for complete DiGeorge syndrome: European experience [PDF]
Journal of Allergy and Clinical Immunology, 2017 Background: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). Methods: Twelve patients with cDGS were transplanted with allogeneic cultured thymus.
Kimberly Gilmour +2 more
exaly +5 more sources
Drug-induced parkinsonism in a patient with DiGeorge syndrome: a case report [PDF]
Frontiers in NeuroscienceDiGeorge syndrome, also referred as 22q11.2 deletion syndrome is a multisystem disorder associated with an increased risk of early-onset parkinsonism.
Clancy Cerejo +5 more
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Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report [PDF]
Journal of Medical Case ReportsBackground Hypoparathyroidism during pregnancy is an uncommon condition, particularly in nonsurgical patients. DiGeorge syndrome (22q11.2 deletion syndrome), a common microdeletion disorder, presents with highly variable features that often delay ...
Mandar K. Shah +3 more
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Craniofacial Phenotypes and Genetics of DiGeorge Syndrome [PDF]
Journal of Developmental Biology, 2022 The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).
Noriko Funato
doaj +2 more sources
DiGeorge Syndrome: a not so rare disease
Clinics, 2010 INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life.
Angela BF Fomin +5 more
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DiGeorge syndrome: consider the diagnosis. [PDF]
BMJ Case Rep, 2022 DiGeorge syndrome (DGS) is caused by a chromosomal microdeletion at 22q11.2 that results in impaired development of the pharyngeal pouch system. Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus and cardiac outflow tract. Doctors have been routinely testing for DGS in newborns with conotruncal
Altshuler E, Saidi A, Budd J.
europepmc +3 more sources
Citation: 'DiGeorge syndrome' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10603 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Chamarthi VS, Lackey AE, Chamarthi S.
europepmc +3 more sources
Digeorge syndrome: A case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. DiGeorge syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with ...
Popović-Deušić Smiljka +5 more
doaj +3 more sources