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DiGeorge Syndrome: a not so rare disease [PDF]
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: 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
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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
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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
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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
Prenatal Diagnosis of Digeorge Syndrome
Taiwanese Journal of Obstetrics & Gynecology, 2008 Velocardiofacial syndrome, conotruncal congenital heart disease and DiGeorge syndrome present different aspects of the same clinical situation, but congenital heart disease is common to them all [1]. Other defects found in these syndromes include abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia.
Ümit Göktolga +6 more
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A model for preservation of thymocyte-depleted thymus [PDF]
Brazilian Journal of Medical and Biological Research, 2023 DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome ...
A.S. Dias +10 more
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Stem Cell Research, 2022 DiGeorge syndrome (22q11.2 deletion syndrome, or CATCH22 syndrome), caused by hemizygous deletion of chromosome 22q11.2, results in the poor development of multiple organs.
Tomoya Shimizu +9 more
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