Results 11 to 20 of about 1,144,251 (159)
DiGeorge syndrome who developed lymphoproliferative mediastinal mass [PDF]
Korean Journal of Pediatrics, 2015 DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum.
Kyu Yeun Kim +5 more
doaj +5 more sources
Follicular Helper T Cells in DiGeorge Syndrome
Frontiers in Immunology, 2018 DiGeorge syndrome is an immunodeficiency characterized by thymic dysplasia resulting in T cell lymphopenia. Most patients suffer from increased susceptibility to infections and heightened prevalence of autoimmune disorders, such as autoimmune ...
Adam Klocperk +8 more
doaj +2 more sources
Features of Diagnosing and Managing a Patient with DiGeorge Syndrome
Zdorovʹe Rebenka, 2016 The article presents a case of own clinical observation of DiGeorge syndrome (22q11.2 chromosome deletion syndrome) in a child. The features of the disease course with the dominance of clinical symptoms of congenital malformations of the heart, blood ...
O.S. Koreniuk +3 more
doaj +2 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
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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
doaj +2 more sources
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome? [PDF]
Case Reports in Pediatrics, 2015 We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild ...
Gianluigi Laccetta +5 more
doaj +2 more sources
22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter [PDF]
Cardiogenetics, 2011 Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and ...
Antonio Baldini +2 more
doaj +3 more sources
Ocular manifestations of DiGeorge syndrome: A diagnostic dilemma
Indian Journal of Ophthalmology. Case Reports, 2023 A 20-year-old woman with facial features of DiGeorge syndrome came for a regular ophthalmic examination. She had hypoparathyroidism with hypocalcemic tetany and severe anemia but no cardiac anomalies.
P Jayasri +3 more
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Aspiration pneumonia in the child with DiGeorge syndrome -A case report- [PDF]
Korean Journal of Anesthesiology, 2011 DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome.
Ji-Young Lee, Yun-Joung Han
doaj +1 more source
Psychiatric Comorbidities in Adults with DiGeorge Syndrome. [PDF]
Clin Psychopharmacol Neurosci, 2022 OBJECTIVE: DiGeorge Syndrome (DGS) is a common multisystem disorder associated with deletions on chromosome 22q11.2. Our objective is to evaluate the psychiatric comorbidities and demographics of patients suffering from DGS in a nationally representative
Patel H +8 more
europepmc +2 more sources