FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME

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...

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Bibliographic Details
Main Authors:	I. A. Tuzankina, S. S. Deryabina, E. V. Vlasova, M. A. Bolkov
Format:	Article
Language:	Russian
Published:	St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists 2017-01-01
Series:	Медицинская иммунология
Subjects:	22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype
Online Access:	https://www.mimmun.ru/mimmun/article/view/1170

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