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Abstract
A clinical case of orphan genetic pathology – Di Georgi syndrome in a child in the neonatal period is presented. The complexity of timely diagnosis of this complication is demonstrated.
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Dyakova SE, Misernitsky YuL, Shvets OV, Lev NS, Kostyuchenko MV, Zimin SB. Di George syndrome in the practice of a pediatric pulmonologist. Russian Bulletin of Perinatology and Pediatrics. 2016; 61(5): 57-63. Russian (Дьякова С.Э., Мизерницкий Ю.Л., Швец О.В., Лев Н.С., Костюченко М.В., Зимин С.Б. Синдром Ди Джорджи в практике детского пульмонолога //Российский вестник перинатологии и педиатрии. 2016. Т. 61, № 5. С. 57-63)
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992; 44: 261-268
Rozas MF, Benavides F, León L, Repetto GM. Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis. Orphanet J Rare Dis. 2019; 14(1): 195. doi: 10.1186/s13023-019-1170-x
Bajaj S, Thombare TS, Tullu MS, Agrawal M. “FISHed” out the diagnosis: A case of DiGeorge syndrome. J Postgrad Med. 2016; 62(2): 118-123. doi: 10.4103/0022-3859.167730
Shibelgut NM, Zakharov IS, Moses VG. Clinical and biochemical manifestations of undifferentiated forms of connective tissue dysplasia in pregnant women with varicose veins of the small pelvis. Saratov Journal of Medical Scientific Research. 2010; 6(1): 056-060. Russian (Шибельгут Н.М., Захаров И.С., Мозес В.Г. Клинико-биохимические проявления недифференцированных форм дисплазии соединительной ткани у беременных с варикозной болезнью вен малого таза //Саратовский научно-медицинский журнал. 2010. Т. 6, № 1. С. 056-060)
Moses VG. The role of systemic lesion of connective tissue in the genesis of varicose veins of the small pelvis in adolescents. Kazan medical journal. 2006; 87(2): 102-104. Russian (Мозес В.Г. Роль системного поражения соединительной ткани в генезе варикозного расширения вен малого таза у подростков //Казанский медицинский журнал. 2006. Т. 87, № 2. С. 102-104)
Moses VG, Moses KB. Clinical manifestations of a systemic lesion of connective tissue in women of early reproductive age with varicose veins of the small pelvis. Bulletin of Siberian medicine. 2006; 5(1): 87-90. Russian (Мозес В.Г., Мозес К.Б. Клинические проявления системного поражения соединительной ткани у женщин раннего репродуктивного возраста с варикозным расширением вен малого таза //Бюллетень сибирской медицины. 2006. Т. 5, № 1. С. 87-90)
Maggadottir SM, Sullivan KE. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract. 2013; 1: 589-594
Souto Filho JTD, Ribeiro HAA, Fassbender IPB, Ribeiro JMM, Ferreira Júnior W, Figueiredo LC. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome. Blood Coagul Fibrinolysis. 2019; 30(8): 423-425. doi: 10.1097/MBC.0000000000000849
Nepesov S, Aygün FD, Küçüksezer U, Taşdemir E, Çokuğraş H, Camcıoğlu Y. Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience. Turk Pediatri Ars. 2019; 54(1): 28-34. doi: 10.14744/TurkPediatriArs.2019.95815