FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
https://doi.org/10.15789/1563-0625-2017-1-95-100
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.
About the Authors
I. A. Tuzankina
B. Yeltsin Ural Federal University;
Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences;
Regional Pediatric Clinical Hospital No. 1
Russian Federation
Russian Federation
Leading Research Associate, Department of Immunochemistry;
PhD, MD (Medicine), Professor, Сhief Pediatric Immunologist at the Ministry of Health of Sverdlovsk Region, Main Research Associate, Laboratory of Inflammation Immunology, 620049, Yekaterinbourg, Pervomayskaya str., 106;
Clinical Allergologist, Research Department
S. S. Deryabina
B. Yeltsin Ural Federal University;
Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences
Russian Federation
Russian Federation
Junior Research Associate, Laboratory of Inflammation Immunology, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences,
Yekaterinbourg
E. V. Vlasova
Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences;
Regional Pediatric Clinical Hospital No. 1
Russian Federation
Russian Federation
PhD (Medicine), Chief, Department of Clinical Immunology, Regional Pediatric Clinical Hospital No. 1,
Yekaterinbourg
M. A. Bolkov
B. Yeltsin Ural Federal University;
Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences
Russian Federation
Russian Federation
Senior Research Associate, Department of Immunochemistry;
PhD (Medicine), Research Associate, Laboratory of Inflammation Immunology;Yekaterinbourg
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Review
For citations:
Tuzankina I.A., Deryabina S.S., Vlasova E.V., Bolkov M.A. FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME. Medical Immunology (Russia). 2017;19(1):95-100. (In Russ.) https://doi.org/10.15789/1563-0625-2017-1-95-100
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