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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An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome [PDF]
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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Follicular Helper T Cells in DiGeorge Syndrome [PDF]
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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Features of Diagnosing and Managing a Patient with DiGeorge Syndrome [PDF]
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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Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome? [PDF]
Case Reports in Pediatrics, 2015 We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild ...
Gianluigi Laccetta +5 more
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DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood [PDF]
Case Reports in Medicine, 2013 Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report.
Adrian Zammit +3 more
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22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter [PDF]
Cardiogenetics, 2011 Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and ...
Antonio Baldini +2 more
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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci [PDF]
Orphanet Journal of Rare Diseases, 2011 Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Odent Sylvie +12 more
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Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome [PDF]
Case Reports in Orthopedics, 2015 A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable
Massimo Berruto +5 more
doaj +2 more sources
Asthma Allergy Immunology, 2016 DiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir.
Bahar Göktürk, İsmail Reisli
openaire +4 more sources