Results 11 to 20 of about 9,184 (168)
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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An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
Case Reports in Neurology, 2020 DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy.
Roshni Dhoot +3 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
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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
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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
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Delayed diagnosis of annular pancreas in 11-year-old girl with DiGeorge syndrome
Journal of Pediatric Surgery Case Reports, 2020 DiGeorge Syndrome is a collection of symptoms stemming from a heterozygous microdeletion on chromosome 22. An eleven-year-old girl with DiGeorge syndrome presented to our Pediatric Surgery with a history of episodes of vomiting since birth, and a recent ...
Mary Margaret Barr +2 more
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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
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Wandering spleen with splenic torsion in a child with DiGeorge syndrome
Radiology Case Reports, 2019 Wandering spleen is a rare condition, occurring due to either abnormal development of or abnormal laxity of suspensory ligaments. The hypermobility of the spleen predisposes these patients to splenic torsion, which may be a life-threatening complication.
Charlotte S. Taylor, MD +1 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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