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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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22q11.2 deletion syndrome [PDF]
, 2015 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S. +11 more
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DiGeorge-like Syndrome in a Child with a 3p12.3 Deletion Involving MIR4273 Gene Born to a Mother with Gestational Diabetes Mellitus [PDF]
, 2007 Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS.
Cirillo, Emilia +10 more
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 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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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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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).
Baldini, Antonio +4 more
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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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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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