Please use this identifier to cite or link to this item: http://elar.urfu.ru/handle/10995/74965
Title: СЕМЕЙНЫЙ СЛУЧАЙ СИНДРОМА ДИ ДЖОРДЖИ (СИНДРОМА ДЕЛЕЦИИ 22q11.2)
Other Titles: Familial case of chromosome 22q11.2 deletion syndrome
Authors: Tuzankina, I. A.
Deryabina, S. S.
Vlasova, E. V.
Bolkov, M. A.
Тузанкина, И. А.
Дерябина, С. С.
Власова, Е. В.
Болков, М. А.
Issue Date: 2017
Publisher: Russian Association of Allergologists and Clinical Immunologists, St. Petersburg Regional Branch (SPb RAACI)
Санкт-Петербургское региональное отделение Российской ассоциации аллергологов и клинических иммунологов
Citation: СЕМЕЙНЫЙ СЛУЧАЙ СИНДРОМА ДИ ДЖОРДЖИ (СИНДРОМА ДЕЛЕЦИИ 22q11.2) / И. А. Тузанкина, С. С. Дерябина, Е. В. Власова и др. // Медицинская иммунология. — 2017. — Т. 19. — №. 1. — С. 95-100.
Abstract: The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype. Hence, this interesting case of 22q11.2 deletion syndrome exists in 2 generations of the same family. The aim of this study was analysis of phenotypic manifestations in the family members with 22q11.2 deletion syndrome. Clinical examination of the patients, their life story and pedigree and, along with routine clinical and biochemical analysis, and immune state testing, along with ultrasound imaging of thymus and thyroid glands, heart and abdominal cavity. We made conclusions that the phenotypic features associated with chromosome 22q11.2 deletion may be different for distinct family members. Further studies are required to determine length of deleted segment and the genes affected, as well as to establish the genotype-phenotype interactions and disease prognosis. © 2017, SPb RAACI.
Keywords: 22Q11.2 DELETION SYNDROME
IMMUNE DEFICIENCY SYNDROMES
MLPA
PHENOTYPE
SIBLINGS
URI: http://elar.urfu.ru/handle/10995/74965
Access: info:eu-repo/semantics/openAccess
RSCI ID: 28888687
SCOPUS ID: 85011015676
PURE ID: 1482588
ISSN: 1563-0625
DOI: 10.15789/1563-0625-2017-1-95-100
Appears in Collections:Научные публикации, проиндексированные в SCOPUS и WoS CC

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