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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	I. A. Tuzankina, S. S. Deryabina, E. V. Vlasova, M. A. Bolkov
Formato:	article
Lenguaje:	RU
Publicado:	SPb RAACI 2017
Materias:	22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/37f763de45724cc993fe6fdefad04732
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:37f763de45724cc993fe6fdefad04732
record_format	dspace
spelling	oai:doaj.org-article:37f763de45724cc993fe6fdefad047322021-11-18T08:03:46ZFAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME1563-06252313-741X10.15789/1563-0625-2017-1-95-100https://doaj.org/article/37f763de45724cc993fe6fdefad047322017-01-01T00:00:00Zhttps://www.mimmun.ru/mimmun/article/view/1170https://doaj.org/toc/1563-0625https://doaj.org/toc/2313-741XThe 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.I. A. TuzankinaS. S. DeryabinaE. V. VlasovaM. A. BolkovSPb RAACIarticle22q11.2 deletion syndromeimmune deficiency syndromessiblingsmlpaphenotypeImmunologic diseases. AllergyRC581-607RUMedicinskaâ Immunologiâ, Vol 19, Iss 1, Pp 95-100 (2017)
institution	DOAJ
collection	DOAJ
language	RU
topic	22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype Immunologic diseases. Allergy RC581-607
spellingShingle	22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype Immunologic diseases. Allergy RC581-607 I. A. Tuzankina S. S. Deryabina E. V. Vlasova M. A. Bolkov FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
description	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.
format	article
author	I. A. Tuzankina S. S. Deryabina E. V. Vlasova M. A. Bolkov
author_facet	I. A. Tuzankina S. S. Deryabina E. V. Vlasova M. A. Bolkov
author_sort	I. A. Tuzankina
title	FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
title_short	FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
title_full	FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
title_fullStr	FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
title_full_unstemmed	FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
title_sort	familial case of chromosome 22q11.2 deletion syndrome
publisher	SPb RAACI
publishDate	2017
url	https://doaj.org/article/37f763de45724cc993fe6fdefad04732
work_keys_str_mv	AT iatuzankina familialcaseofchromosome22q112deletionsyndrome AT ssderyabina familialcaseofchromosome22q112deletionsyndrome AT evvlasova familialcaseofchromosome22q112deletionsyndrome AT mabolkov familialcaseofchromosome22q112deletionsyndrome
_version_	1718422409173794816

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME

Ejemplares similares