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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists
2017-01-01
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| Series: | Медицинская иммунология |
| Subjects: | |
| Online Access: | https://www.mimmun.ru/mimmun/article/view/1170 |
| _version_ | 1797197937106747392 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-08T05:49:30Z |
| format | Article |
| id | doaj.art-37f763de45724cc993fe6fdefad04732 |
| institution | Directory Open Access Journal |
| issn | 1563-0625 2313-741X |
| language | Russian |
| last_indexed | 2024-04-24T06:51:54Z |
| publishDate | 2017-01-01 |
| publisher | St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists |
| record_format | Article |
| series | Медицинская иммунология |
| spelling | doaj.art-37f763de45724cc993fe6fdefad047322024-04-22T13:07:41ZrusSt. Petersburg branch of the Russian Association of Allergologists and Clinical ImmunologistsМедицинская иммунология1563-06252313-741X2017-01-011919510010.15789/1563-0625-2017-1-95-100887FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROMEI. A. Tuzankina0S. S. Deryabina1E. V. Vlasova2M. A. Bolkov3B. Yeltsin Ural Federal University; Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; Regional Pediatric Clinical Hospital No. 1B. Yeltsin Ural Federal University; Institute of Immunology and Physiology, Ural Branch, Russian Academy of SciencesInstitute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; Regional Pediatric Clinical Hospital No. 1B. Yeltsin Ural Federal University; Institute of Immunology and Physiology, Ural Branch, Russian Academy of SciencesThe 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.https://www.mimmun.ru/mimmun/article/view/117022q11.2 deletion syndromeimmune deficiency syndromessiblingsmlpaphenotype |
| spellingShingle | I. A. Tuzankina S. S. Deryabina E. V. Vlasova M. A. Bolkov FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME Медицинская иммунология 22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype |
| title | 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_short | FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME |
| title_sort | familial case of chromosome 22q11 2 deletion syndrome |
| topic | 22q11.2 deletion syndrome immune deficiency syndromes siblings mlpa phenotype |
| url | https://www.mimmun.ru/mimmun/article/view/1170 |
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