Results 1 to 10 of about 1,144,251 (159)
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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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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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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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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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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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
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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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