Results 21 to 30 of about 1,144,251 (159)
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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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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, 2013 \ua9 2013 Elsevier Inc. All rights reserved. In 1965, DiGeorge recognized the association of hypocalcemia secondary to parathyroid hypoplasia and the absence of the thymus.
Bamforth SD, Burn J
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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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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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Frontiers in Endocrinology, 2023 IntroductionThe chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms ...
Walter Maria Sarli +19 more
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New characterization of congenital immunodeficiencies due to different functional alterations [PDF]
, 2010 In the last thirty years of the 20th century, a formidable numbers of scientific discoveries in the field of PIDs were made. Many scientific papers have been published on the molecular and cellular basis of the immune response and on the mechanisms ...
Fusco, Anna
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22q11.2 microdeletion syndrome as a multidisciplinary problem
Pediatria i Medycyna Rodzinna, 2017 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases,
Marta Skoczyńska, Izabela Lehman
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European Journal of Case Reports in Internal Medicine, 2021 22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia,
Melissa Elise van der Meijs +2 more
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Oral and Clinical Manifestations of DiGeorge Syndrome with Primary Hypoparathyroidism: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchDiGeorge syndrome is an autosomal dominant inherited disorder caused by a deletion of chromosome 22q11.2. It is a multisystem condition, classically presenting with a triad of congenital heart defects, hypoplasia of the parathyroid glands and thymus,
Nayantara Menon +4 more
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