Results 21 to 30 of about 10,384 (199)
Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome
American Journal of Ophthalmology Case Reports, 2022 Purpose: DiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions.
Igor Kozak, Syed A. Ali, Wei-Chi Wu
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 +3 more sources
Frontiers in Genetics, 2022 We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22)
Zimeng Gao +8 more
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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
Subglottic stenosis as an early presentation of DiGeorge Syndrome [PDF]
, 2023 Introduction: DiGeorge Syndrome, a microdeletion on chromosome 22q11.2, encompasses a myriad of congenital abnormalities. These often include cardiac malformations, velopharyngeal insufficiency, immune deficiency, parathyroid hypoplasia, and hypocalcemia.
Szydłowski, Jarosław +3 more
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Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
, 2013 The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
E. Graham Davies +2 more
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Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. [PDF]
, 2013 BACKGROUND: Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS).
Morrow BE +8 more
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DiGeorge syndrome associated with left lung aplasia [PDF]
, 2001 We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated ...
Gunlemez, AYLA +3 more
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DiGeorge syndrome and pharyngeal apparatus development [PDF]
, 2006 DiGeorge syndrome is the most frequent microdeletion syndrome in humans, and is characterized by cardiovascular, thymic and parathyroid, and craniofacial anomalies.
Ittner, Lars M +2 more
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