22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
The article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels, congenital defects in the maxillofacial area, as well a...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2016-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1697 |
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| author | Leyla S. Namazova-Baranova Olga V. Ginter Tatyana A. Polunina Irina V. Davydova Kirill V. Savostyanov Alexandr A. Pushkov Natalya V. Jourkova Tatyana Y. Mospan |
| author_facet | Leyla S. Namazova-Baranova Olga V. Ginter Tatyana A. Polunina Irina V. Davydova Kirill V. Savostyanov Alexandr A. Pushkov Natalya V. Jourkova Tatyana Y. Mospan |
| author_sort | Leyla S. Namazova-Baranova |
| collection | DOAJ |
| description | The article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels, congenital defects in the maxillofacial area, as well as the endocrine and immune disorders. 22q11.2 deletion syndrome — del 22q11.2 (22q11DS) may have more than 180 different physical, functional and mental associations that affect the patient’s health and quality of life since very birth. Clinical diagnosis and early diagnostics are essential to optimize treatment, and awareness and understanding of the pathological processes in del 22q11.2 definitely involve the use of the multidisciplinary treatment principles. The article describes the modern scientific understanding of 22q11.2 deletion syndrome based on the experience of foreign and Russian authors. The basic clinical symptoms, diagnosis and recommendations for screening and treatment of this kind of patients are described. |
| format | Article |
| id | doaj-art-c96f8e2261f54c87998c463bea6e50e0 |
| institution | Matheson Library |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2016-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-c96f8e2261f54c87998c463bea6e50e02025-08-04T13:09:38Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-12-0115659059510.15690/vsp.v15i6.1656164622q11.2 Deletion Syndrome: Symptoms, Diagnosis, TreatmentLeyla S. Namazova-Baranova0Olga V. Ginter1Tatyana A. Polunina2Irina V. Davydova3Kirill V. Savostyanov4Alexandr A. Pushkov5Natalya V. Jourkova6Tatyana Y. Mospan7Scientific Center of Children’s Health Sechenov First Moscow State Medical University Pirogov Russian National Research Medical UniversityScientific Center of Children’s HealthScientific Center of Children’s HealthScientific Center of Children’s Health Sechenov First Moscow State Medical UniversityScientific Center of Children’s HealthScientific Center of Children’s HealthScientific Center of Children’s HealthScientific Center of Children’s HealthThe article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels, congenital defects in the maxillofacial area, as well as the endocrine and immune disorders. 22q11.2 deletion syndrome — del 22q11.2 (22q11DS) may have more than 180 different physical, functional and mental associations that affect the patient’s health and quality of life since very birth. Clinical diagnosis and early diagnostics are essential to optimize treatment, and awareness and understanding of the pathological processes in del 22q11.2 definitely involve the use of the multidisciplinary treatment principles. The article describes the modern scientific understanding of 22q11.2 deletion syndrome based on the experience of foreign and Russian authors. The basic clinical symptoms, diagnosis and recommendations for screening and treatment of this kind of patients are described.https://vsp.spr-journal.ru/jour/article/view/169722q11.2 deletionchildrensyndromechromosomechromosomal disease |
| spellingShingle | Leyla S. Namazova-Baranova Olga V. Ginter Tatyana A. Polunina Irina V. Davydova Kirill V. Savostyanov Alexandr A. Pushkov Natalya V. Jourkova Tatyana Y. Mospan 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment Вопросы современной педиатрии 22q11.2 deletion children syndrome chromosome chromosomal disease |
| title | 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment |
| title_full | 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment |
| title_fullStr | 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment |
| title_full_unstemmed | 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment |
| title_short | 22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment |
| title_sort | 22q11 2 deletion syndrome symptoms diagnosis treatment |
| topic | 22q11.2 deletion children syndrome chromosome chromosomal disease |
| url | https://vsp.spr-journal.ru/jour/article/view/1697 |
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